SNP Links for Protein (Select 557129025) - SNP

Links from Protein

Items: 1 to 20 of 438

<< First< Prev

Page of 22

Next >Last >>

Select item 14895465761.

rs1489546576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:3285109 (GRCh38)
6:3285343 (GRCh37)
Canonical SPDI:: NC_000006.12:3285108:T:C
Gene:: SLC22A23 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.3285109T>C, NC_000006.11:g.3285343T>C, NM_021945.6:c.706A>G, NM_021945.5:c.706A>G, XM_011514801.3:c.1621A>G, XM_011514801.2:c.1621A>G, XM_011514801.1:c.1621A>G, XM_017011180.2:c.1027A>G, XM_017011180.1:c.1027A>G, NM_015482.2:c.1549A>G, NM_015482.1:c.1549A>G, XM_017011186.2:c.706A>G, XM_017011186.1:c.706A>G, XM_017011184.2:c.604A>G, XM_017011184.1:c.604A>G, XM_047419243.1:c.604A>G, NR_168069.1:n.1781A>G, NM_001286455.1:c.706A>G, XM_047419241.1:c.604A>G, XM_047419242.1:c.604A>G, NR_104448.1:n.1143A>G, NM_001382318.1:c.658A>G, NM_001382317.1:c.1549A>G, NM_001382319.1:c.658A>G, NP_068764.3:p.Ile236Val, XP_011513103.1:p.Ile541Val, XP_016866669.1:p.Ile343Val, NP_056297.1:p.Ile517Val, XP_016866675.1:p.Ile236Val, XP_016866673.1:p.Ile202Val, XP_047275199.1:p.Ile202Val, NP_001273384.1:p.Ile236Val, XP_047275197.1:p.Ile202Val, XP_047275198.1:p.Ile202Val, NP_001369247.1:p.Ile220Val, NP_001369246.1:p.Ile517Val, NP_001369248.1:p.Ile220Val

Select item 14894070852.

rs1489407085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:3273360 (GRCh38)
6:3273594 (GRCh37)
Canonical SPDI:: NC_000006.12:3273359:C:T
Gene:: SLC22A23 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.3273360C>T, NC_000006.11:g.3273594C>T, NM_021945.6:c.913G>A, NM_021945.5:c.913G>A, XM_011514801.3:c.1828G>A, XM_011514801.2:c.1828G>A, XM_011514801.1:c.1828G>A, XM_017011180.2:c.1234G>A, XM_017011180.1:c.1234G>A, NM_015482.2:c.1756G>A, NM_015482.1:c.1756G>A, XM_017011186.2:c.913G>A, XM_017011186.1:c.913G>A, XM_017011184.2:c.811G>A, XM_017011184.1:c.811G>A, XM_047419243.1:c.811G>A, NR_168069.1:n.1988G>A, NM_001286455.1:c.913G>A, XM_047419241.1:c.811G>A, XM_047419242.1:c.811G>A, NR_104448.1:n.1350G>A, NM_001382318.1:c.865G>A, NP_068764.3:p.Ala305Thr, XP_011513103.1:p.Ala610Thr, XP_016866669.1:p.Ala412Thr, NP_056297.1:p.Ala586Thr, XP_016866675.1:p.Ala305Thr, XP_016866673.1:p.Ala271Thr, XP_047275199.1:p.Ala271Thr, NP_001273384.1:p.Ala305Thr, XP_047275197.1:p.Ala271Thr, XP_047275198.1:p.Ala271Thr, NP_001369247.1:p.Ala289Thr

Select item 14832433033.

rs1483243303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:3289810 (GRCh38)
6:3290044 (GRCh37)
Canonical SPDI:: NC_000006.12:3289809:C:T
Gene:: SLC22A23 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.3289810C>T, NC_000006.11:g.3290044C>T, NM_021945.6:c.424G>A, NM_021945.5:c.424G>A, XM_011514801.3:c.1339G>A, XM_011514801.2:c.1339G>A, XM_011514801.1:c.1339G>A, XM_017011180.2:c.745G>A, XM_017011180.1:c.745G>A, NM_015482.2:c.1267G>A, NM_015482.1:c.1267G>A, XM_017011186.2:c.424G>A, XM_017011186.1:c.424G>A, XM_017011184.2:c.322G>A, XM_017011184.1:c.322G>A, XM_047419243.1:c.322G>A, NR_168069.1:n.1499G>A, NM_001286455.1:c.424G>A, XM_047419241.1:c.322G>A, XM_047419242.1:c.322G>A, NR_104448.1:n.861G>A, NM_001382318.1:c.376G>A, NM_001382317.1:c.1267G>A, NM_001382319.1:c.376G>A, NP_068764.3:p.Gly142Arg, XP_011513103.1:p.Gly447Arg, XP_016866669.1:p.Gly249Arg, NP_056297.1:p.Gly423Arg, XP_016866675.1:p.Gly142Arg, XP_016866673.1:p.Gly108Arg, XP_047275199.1:p.Gly108Arg, NP_001273384.1:p.Gly142Arg, XP_047275197.1:p.Gly108Arg, XP_047275198.1:p.Gly108Arg, NP_001369247.1:p.Gly126Arg, NP_001369246.1:p.Gly423Arg, NP_001369248.1:p.Gly126Arg

Select item 14793250254.

rs1479325025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:3283955 (GRCh38)
6:3284189 (GRCh37)
Canonical SPDI:: NC_000006.12:3283954:C:T
Gene:: SLC22A23 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.3283955C>T, NC_000006.11:g.3284189C>T, NM_021945.6:c.757G>A, NM_021945.5:c.757G>A, XM_011514801.3:c.1672G>A, XM_011514801.2:c.1672G>A, XM_011514801.1:c.1672G>A, XM_017011180.2:c.1078G>A, XM_017011180.1:c.1078G>A, NM_015482.2:c.1600G>A, NM_015482.1:c.1600G>A, XM_017011186.2:c.757G>A, XM_017011186.1:c.757G>A, XM_017011184.2:c.655G>A, XM_017011184.1:c.655G>A, XM_047419243.1:c.655G>A, NR_168069.1:n.1832G>A, NM_001286455.1:c.757G>A, XM_047419241.1:c.655G>A, XM_047419242.1:c.655G>A, NR_104448.1:n.1194G>A, NM_001382318.1:c.709G>A, NM_001382317.1:c.1600G>A, NM_001382319.1:c.709G>A, NP_068764.3:p.Asp253Asn, XP_011513103.1:p.Asp558Asn, XP_016866669.1:p.Asp360Asn, NP_056297.1:p.Asp534Asn, XP_016866675.1:p.Asp253Asn, XP_016866673.1:p.Asp219Asn, XP_047275199.1:p.Asp219Asn, NP_001273384.1:p.Asp253Asn, XP_047275197.1:p.Asp219Asn, XP_047275198.1:p.Asp219Asn, NP_001369247.1:p.Asp237Asn, NP_001369246.1:p.Asp534Asn, NP_001369248.1:p.Asp237Asn

Select item 14789702525.

rs1478970252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:3283974 (GRCh38)
6:3284208 (GRCh37)
Canonical SPDI:: NC_000006.12:3283973:C:A
Gene:: SLC22A23 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.3283974C>A, NC_000006.11:g.3284208C>A, NM_021945.6:c.738G>T, NM_021945.5:c.738G>T, XM_011514801.3:c.1653G>T, XM_011514801.2:c.1653G>T, XM_011514801.1:c.1653G>T, XM_017011180.2:c.1059G>T, XM_017011180.1:c.1059G>T, NM_015482.2:c.1581G>T, NM_015482.1:c.1581G>T, XM_017011186.2:c.738G>T, XM_017011186.1:c.738G>T, XM_017011184.2:c.636G>T, XM_017011184.1:c.636G>T, XM_047419243.1:c.636G>T, NR_168069.1:n.1813G>T, NM_001286455.1:c.738G>T, XM_047419241.1:c.636G>T, XM_047419242.1:c.636G>T, NR_104448.1:n.1175G>T, NM_001382318.1:c.690G>T, NM_001382317.1:c.1581G>T, NM_001382319.1:c.690G>T

Select item 14733996716.

rs1473399671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:3283881 (GRCh38)
6:3284115 (GRCh37)
Canonical SPDI:: NC_000006.12:3283880:G:A
Gene:: SLC22A23 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.3283881G>A, NC_000006.11:g.3284115G>A, NM_021945.6:c.831C>T, NM_021945.5:c.831C>T, XM_011514801.3:c.1746C>T, XM_011514801.2:c.1746C>T, XM_011514801.1:c.1746C>T, XM_017011180.2:c.1152C>T, XM_017011180.1:c.1152C>T, NM_015482.2:c.1674C>T, NM_015482.1:c.1674C>T, XM_017011186.2:c.831C>T, XM_017011186.1:c.831C>T, XM_017011184.2:c.729C>T, XM_017011184.1:c.729C>T, XM_047419243.1:c.729C>T, NR_168069.1:n.1906C>T, NM_001286455.1:c.831C>T, XM_047419241.1:c.729C>T, XM_047419242.1:c.729C>T, NR_104448.1:n.1268C>T, NM_001382318.1:c.783C>T, NM_001382317.1:c.1674C>T, NM_001382319.1:c.783C>T

Select item 14725129877.

rs1472512987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:3323970 (GRCh38)
6:3324204 (GRCh37)
Canonical SPDI:: NC_000006.12:3323969:T:C
Gene:: SLC22A23 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.3323970T>C, NC_000006.11:g.3324204T>C, NM_021945.6:c.103A>G, NM_021945.5:c.103A>G, XM_011514801.3:c.1018A>G, XM_011514801.2:c.1018A>G, XM_011514801.1:c.1018A>G, XM_017011180.2:c.424A>G, XM_017011180.1:c.424A>G, NM_015482.2:c.946A>G, NM_015482.1:c.946A>G, XM_017011186.2:c.103A>G, XM_017011186.1:c.103A>G, XM_017011184.2:c.1A>G, XM_017011184.1:c.1A>G, NM_001286456.2:c.946A>G, NM_001286456.1:c.946A>G, XM_047419243.1:c.1A>G, NR_168069.1:n.1178A>G, NM_001286455.1:c.103A>G, XM_047419241.1:c.1A>G, XM_047419242.1:c.1A>G, NR_104448.1:n.487A>G, NM_001382318.1:c.55A>G, NM_001382317.1:c.946A>G, NM_001382319.1:c.55A>G, NM_001382320.1:c.*27A>G, NM_001382321.1:c.55A>G, NP_068764.3:p.Met35Val, XP_011513103.1:p.Met340Val, XP_016866669.1:p.Met142Val, NP_056297.1:p.Met316Val, XP_016866675.1:p.Met35Val, XP_016866673.1:p.Met1Val, NP_001273385.1:p.Met316Val, XP_047275199.1:p.Met1Val, NP_001273384.1:p.Met35Val, XP_047275197.1:p.Met1Val, XP_047275198.1:p.Met1Val, NP_001369247.1:p.Met19Val, NP_001369246.1:p.Met316Val, NP_001369248.1:p.Met19Val, NP_001369250.1:p.Met19Val

Select item 14717636838.

rs1471763683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:3286897 (GRCh38)
6:3287131 (GRCh37)
Canonical SPDI:: NC_000006.12:3286896:G:A,NC_000006.12:3286896:G:C
Gene:: SLC22A23 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.3286897G>A, NC_000006.12:g.3286897G>C, NC_000006.11:g.3287131G>A, NC_000006.11:g.3287131G>C, NM_021945.6:c.665C>T, NM_021945.6:c.665C>G, NM_021945.5:c.665C>T, NM_021945.5:c.665C>G, XM_011514801.3:c.1580C>T, XM_011514801.3:c.1580C>G, XM_011514801.2:c.1580C>T, XM_011514801.2:c.1580C>G, XM_011514801.1:c.1580C>T, XM_011514801.1:c.1580C>G, XM_017011180.2:c.986C>T, XM_017011180.2:c.986C>G, XM_017011180.1:c.986C>T, XM_017011180.1:c.986C>G, NM_015482.2:c.1508C>T, NM_015482.2:c.1508C>G, NM_015482.1:c.1508C>T, NM_015482.1:c.1508C>G, XM_017011186.2:c.665C>T, XM_017011186.2:c.665C>G, XM_017011186.1:c.665C>T, XM_017011186.1:c.665C>G, XM_017011184.2:c.563C>T, XM_017011184.2:c.563C>G, XM_017011184.1:c.563C>T, XM_017011184.1:c.563C>G, XM_047419243.1:c.563C>T, XM_047419243.1:c.563C>G, NR_168069.1:n.1740C>T, NR_168069.1:n.1740C>G, NM_001286455.1:c.665C>T, NM_001286455.1:c.665C>G, XM_047419241.1:c.563C>T, XM_047419241.1:c.563C>G, XM_047419242.1:c.563C>T, XM_047419242.1:c.563C>G, NR_104448.1:n.1102C>T, NR_104448.1:n.1102C>G, NM_001382318.1:c.617C>T, NM_001382318.1:c.617C>G, NM_001382317.1:c.1508C>T, NM_001382317.1:c.1508C>G, NM_001382319.1:c.617C>T, NM_001382319.1:c.617C>G, NP_068764.3:p.Thr222Ile, NP_068764.3:p.Thr222Ser, XP_011513103.1:p.Thr527Ile, XP_011513103.1:p.Thr527Ser, XP_016866669.1:p.Thr329Ile, XP_016866669.1:p.Thr329Ser, NP_056297.1:p.Thr503Ile, NP_056297.1:p.Thr503Ser, XP_016866675.1:p.Thr222Ile, XP_016866675.1:p.Thr222Ser, XP_016866673.1:p.Thr188Ile, XP_016866673.1:p.Thr188Ser, XP_047275199.1:p.Thr188Ile, XP_047275199.1:p.Thr188Ser, NP_001273384.1:p.Thr222Ile, NP_001273384.1:p.Thr222Ser, XP_047275197.1:p.Thr188Ile, XP_047275197.1:p.Thr188Ser, XP_047275198.1:p.Thr188Ile, XP_047275198.1:p.Thr188Ser, NP_001369247.1:p.Thr206Ile, NP_001369247.1:p.Thr206Ser, NP_001369246.1:p.Thr503Ile, NP_001369246.1:p.Thr503Ser, NP_001369248.1:p.Thr206Ile, NP_001369248.1:p.Thr206Ser

Select item 14651214129.

rs1465121412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:3286911 (GRCh38)
6:3287145 (GRCh37)
Canonical SPDI:: NC_000006.12:3286910:G:A,NC_000006.12:3286910:G:C
Gene:: SLC22A23 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.3286911G>A, NC_000006.12:g.3286911G>C, NC_000006.11:g.3287145G>A, NC_000006.11:g.3287145G>C, NM_021945.6:c.651C>T, NM_021945.6:c.651C>G, NM_021945.5:c.651C>T, NM_021945.5:c.651C>G, XM_011514801.3:c.1566C>T, XM_011514801.3:c.1566C>G, XM_011514801.2:c.1566C>T, XM_011514801.2:c.1566C>G, XM_011514801.1:c.1566C>T, XM_011514801.1:c.1566C>G, XM_017011180.2:c.972C>T, XM_017011180.2:c.972C>G, XM_017011180.1:c.972C>T, XM_017011180.1:c.972C>G, NM_015482.2:c.1494C>T, NM_015482.2:c.1494C>G, NM_015482.1:c.1494C>T, NM_015482.1:c.1494C>G, XM_017011186.2:c.651C>T, XM_017011186.2:c.651C>G, XM_017011186.1:c.651C>T, XM_017011186.1:c.651C>G, XM_017011184.2:c.549C>T, XM_017011184.2:c.549C>G, XM_017011184.1:c.549C>T, XM_017011184.1:c.549C>G, XM_047419243.1:c.549C>T, XM_047419243.1:c.549C>G, NR_168069.1:n.1726C>T, NR_168069.1:n.1726C>G, NM_001286455.1:c.651C>T, NM_001286455.1:c.651C>G, XM_047419241.1:c.549C>T, XM_047419241.1:c.549C>G, XM_047419242.1:c.549C>T, XM_047419242.1:c.549C>G, NR_104448.1:n.1088C>T, NR_104448.1:n.1088C>G, NM_001382318.1:c.603C>T, NM_001382318.1:c.603C>G, NM_001382317.1:c.1494C>T, NM_001382317.1:c.1494C>G, NM_001382319.1:c.603C>T, NM_001382319.1:c.603C>G

Select item 146363609210.

rs1463636092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:3287038 (GRCh38)
6:3287272 (GRCh37)
Canonical SPDI:: NC_000006.12:3287037:T:G
Gene:: SLC22A23 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.3287038T>G, NC_000006.11:g.3287272T>G, NM_021945.6:c.524A>C, NM_021945.5:c.524A>C, XM_011514801.3:c.1439A>C, XM_011514801.2:c.1439A>C, XM_011514801.1:c.1439A>C, XM_017011180.2:c.845A>C, XM_017011180.1:c.845A>C, NM_015482.2:c.1367A>C, NM_015482.1:c.1367A>C, XM_017011186.2:c.524A>C, XM_017011186.1:c.524A>C, XM_017011184.2:c.422A>C, XM_017011184.1:c.422A>C, XM_047419243.1:c.422A>C, NR_168069.1:n.1599A>C, NM_001286455.1:c.524A>C, XM_047419241.1:c.422A>C, XM_047419242.1:c.422A>C, NR_104448.1:n.961A>C, NM_001382318.1:c.476A>C, NM_001382317.1:c.1367A>C, NM_001382319.1:c.476A>C, NP_068764.3:p.Glu175Ala, XP_011513103.1:p.Glu480Ala, XP_016866669.1:p.Glu282Ala, NP_056297.1:p.Glu456Ala, XP_016866675.1:p.Glu175Ala, XP_016866673.1:p.Glu141Ala, XP_047275199.1:p.Glu141Ala, NP_001273384.1:p.Glu175Ala, XP_047275197.1:p.Glu141Ala, XP_047275198.1:p.Glu141Ala, NP_001369247.1:p.Glu159Ala, NP_001369246.1:p.Glu456Ala, NP_001369248.1:p.Glu159Ala

Select item 146255865411.

rs1462558654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:3323866 (GRCh38)
6:3324100 (GRCh37)
Canonical SPDI:: NC_000006.12:3323865:G:A
Gene:: SLC22A23 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.3323866G>A, NC_000006.11:g.3324100G>A, NM_021945.6:c.207C>T, NM_021945.5:c.207C>T, XM_011514801.3:c.1122C>T, XM_011514801.2:c.1122C>T, XM_011514801.1:c.1122C>T, XM_017011180.2:c.528C>T, XM_017011180.1:c.528C>T, NM_015482.2:c.1050C>T, NM_015482.1:c.1050C>T, XM_017011186.2:c.207C>T, XM_017011186.1:c.207C>T, XM_017011184.2:c.105C>T, XM_017011184.1:c.105C>T, NM_001286456.2:c.1050C>T, NM_001286456.1:c.1050C>T, XM_047419243.1:c.105C>T, NR_168069.1:n.1282C>T, NM_001286455.1:c.207C>T, XM_047419241.1:c.105C>T, XM_047419242.1:c.105C>T, NR_104448.1:n.591C>T, NM_001382318.1:c.159C>T, NM_001382317.1:c.1050C>T, NM_001382319.1:c.159C>T, NM_001382320.1:c.*131C>T, NM_001382321.1:c.159C>T

Select item 145975143112.

rs1459751431 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 6:3273181 (GRCh38)
6:3273415 (GRCh37)
Canonical SPDI:: NC_000006.12:3273177:CTTCTT:CTT
Gene:: SLC22A23 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCTT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.3273178CTT[1], NC_000006.11:g.3273412CTT[1], NM_021945.6:c.1090AAG[1], NM_021945.5:c.1090AAG[1], XM_011514801.3:c.2005AAG[1], XM_011514801.2:c.2005AAG[1], XM_011514801.1:c.2005AAG[1], XM_017011180.2:c.1411AAG[1], XM_017011180.1:c.1411AAG[1], NM_015482.2:c.1933AAG[1], NM_015482.1:c.1933AAG[1], XM_017011186.2:c.1090AAG[1], XM_017011186.1:c.1090AAG[1], XM_017011184.2:c.988AAG[1], XM_017011184.1:c.988AAG[1], XM_047419243.1:c.988AAG[1], NR_168069.1:n.2165AAG[1], NM_001286455.1:c.1090AAG[1], XM_047419241.1:c.988AAG[1], XM_047419242.1:c.988AAG[1], NR_104448.1:n.1527AAG[1], NM_001382318.1:c.1042AAG[1], NP_068764.3:p.Lys365del, XP_011513103.1:p.Lys670del, XP_016866669.1:p.Lys472del, NP_056297.1:p.Lys646del, XP_016866675.1:p.Lys365del, XP_016866673.1:p.Lys331del, XP_047275199.1:p.Lys331del, NP_001273384.1:p.Lys365del, XP_047275197.1:p.Lys331del, XP_047275198.1:p.Lys331del, NP_001369247.1:p.Lys349del

Select item 145646093413.

rs1456460934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:3323856 (GRCh38)
6:3324090 (GRCh37)
Canonical SPDI:: NC_000006.12:3323855:G:A
Gene:: SLC22A23 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.3323856G>A, NC_000006.11:g.3324090G>A, NM_021945.6:c.217C>T, NM_021945.5:c.217C>T, XM_011514801.3:c.1132C>T, XM_011514801.2:c.1132C>T, XM_011514801.1:c.1132C>T, XM_017011180.2:c.538C>T, XM_017011180.1:c.538C>T, NM_015482.2:c.1060C>T, NM_015482.1:c.1060C>T, XM_017011186.2:c.217C>T, XM_017011186.1:c.217C>T, XM_017011184.2:c.115C>T, XM_017011184.1:c.115C>T, NM_001286456.2:c.1060C>T, NM_001286456.1:c.1060C>T, XM_047419243.1:c.115C>T, NR_168069.1:n.1292C>T, NM_001286455.1:c.217C>T, XM_047419241.1:c.115C>T, XM_047419242.1:c.115C>T, NR_104448.1:n.601C>T, NM_001382318.1:c.169C>T, NM_001382317.1:c.1060C>T, NM_001382319.1:c.169C>T, NM_001382320.1:c.*141C>T, NM_001382321.1:c.169C>T

Select item 145004989714.

rs1450049897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:3273232 (GRCh38)
6:3273466 (GRCh37)
Canonical SPDI:: NC_000006.12:3273231:C:G
Gene:: SLC22A23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.3273232C>G, NC_000006.11:g.3273466C>G, NM_021945.6:c.1041G>C, NM_021945.5:c.1041G>C, XM_011514801.3:c.1956G>C, XM_011514801.2:c.1956G>C, XM_011514801.1:c.1956G>C, XM_017011180.2:c.1362G>C, XM_017011180.1:c.1362G>C, NM_015482.2:c.1884G>C, NM_015482.1:c.1884G>C, XM_017011186.2:c.1041G>C, XM_017011186.1:c.1041G>C, XM_017011184.2:c.939G>C, XM_017011184.1:c.939G>C, XM_047419243.1:c.939G>C, NR_168069.1:n.2116G>C, NM_001286455.1:c.1041G>C, XM_047419241.1:c.939G>C, XM_047419242.1:c.939G>C, NR_104448.1:n.1478G>C, NM_001382318.1:c.993G>C, NP_068764.3:p.Glu347Asp, XP_011513103.1:p.Glu652Asp, XP_016866669.1:p.Glu454Asp, NP_056297.1:p.Glu628Asp, XP_016866675.1:p.Glu347Asp, XP_016866673.1:p.Glu313Asp, XP_047275199.1:p.Glu313Asp, NP_001273384.1:p.Glu347Asp, XP_047275197.1:p.Glu313Asp, XP_047275198.1:p.Glu313Asp, NP_001369247.1:p.Glu331Asp

Select item 144453928715.

rs1444539287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:3286914 (GRCh38)
6:3287148 (GRCh37)
Canonical SPDI:: NC_000006.12:3286913:C:T
Gene:: SLC22A23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.3286914C>T, NC_000006.11:g.3287148C>T, NM_021945.6:c.648G>A, NM_021945.5:c.648G>A, XM_011514801.3:c.1563G>A, XM_011514801.2:c.1563G>A, XM_011514801.1:c.1563G>A, XM_017011180.2:c.969G>A, XM_017011180.1:c.969G>A, NM_015482.2:c.1491G>A, NM_015482.1:c.1491G>A, XM_017011186.2:c.648G>A, XM_017011186.1:c.648G>A, XM_017011184.2:c.546G>A, XM_017011184.1:c.546G>A, XM_047419243.1:c.546G>A, NR_168069.1:n.1723G>A, NM_001286455.1:c.648G>A, XM_047419241.1:c.546G>A, XM_047419242.1:c.546G>A, NR_104448.1:n.1085G>A, NM_001382318.1:c.600G>A, NM_001382317.1:c.1491G>A, NM_001382319.1:c.600G>A

Select item 144386624016.

rs1443866240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:3273391 (GRCh38)
6:3273625 (GRCh37)
Canonical SPDI:: NC_000006.12:3273390:C:T
Gene:: SLC22A23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.3273391C>T, NC_000006.11:g.3273625C>T, NM_021945.6:c.882G>A, NM_021945.5:c.882G>A, XM_011514801.3:c.1797G>A, XM_011514801.2:c.1797G>A, XM_011514801.1:c.1797G>A, XM_017011180.2:c.1203G>A, XM_017011180.1:c.1203G>A, NM_015482.2:c.1725G>A, NM_015482.1:c.1725G>A, XM_017011186.2:c.882G>A, XM_017011186.1:c.882G>A, XM_017011184.2:c.780G>A, XM_017011184.1:c.780G>A, XM_047419243.1:c.780G>A, NR_168069.1:n.1957G>A, NM_001286455.1:c.882G>A, XM_047419241.1:c.780G>A, XM_047419242.1:c.780G>A, NR_104448.1:n.1319G>A, NM_001382318.1:c.834G>A

Select item 144374632717.

rs1443746327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:3323985 (GRCh38)
6:3324219 (GRCh37)
Canonical SPDI:: NC_000006.12:3323984:G:A,NC_000006.12:3323984:G:C
Gene:: SLC22A23 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.3323985G>A, NC_000006.12:g.3323985G>C, NC_000006.11:g.3324219G>A, NC_000006.11:g.3324219G>C, NM_021945.6:c.88C>T, NM_021945.6:c.88C>G, NM_021945.5:c.88C>T, NM_021945.5:c.88C>G, XM_011514801.3:c.1003C>T, XM_011514801.3:c.1003C>G, XM_011514801.2:c.1003C>T, XM_011514801.2:c.1003C>G, XM_011514801.1:c.1003C>T, XM_011514801.1:c.1003C>G, XM_017011180.2:c.409C>T, XM_017011180.2:c.409C>G, XM_017011180.1:c.409C>T, XM_017011180.1:c.409C>G, NM_015482.2:c.931C>T, NM_015482.2:c.931C>G, NM_015482.1:c.931C>T, NM_015482.1:c.931C>G, XM_017011186.2:c.88C>T, XM_017011186.2:c.88C>G, XM_017011186.1:c.88C>T, XM_017011186.1:c.88C>G, XM_017011184.2:c.-15C>T, XM_017011184.2:c.-15C>G, XM_017011184.1:c.-15C>T, XM_017011184.1:c.-15C>G, NM_001286456.2:c.931C>T, NM_001286456.2:c.931C>G, NM_001286456.1:c.931C>T, NM_001286456.1:c.931C>G, XM_047419243.1:c.-15C>T, XM_047419243.1:c.-15C>G, NR_168069.1:n.1163C>T, NR_168069.1:n.1163C>G, NM_001286455.1:c.88C>T, NM_001286455.1:c.88C>G, XM_047419241.1:c.-15C>T, XM_047419241.1:c.-15C>G, XM_047419242.1:c.-15C>T, XM_047419242.1:c.-15C>G, NR_104448.1:n.472C>T, NR_104448.1:n.472C>G, NM_001382318.1:c.40C>T, NM_001382318.1:c.40C>G, NM_001382317.1:c.931C>T, NM_001382317.1:c.931C>G, NM_001382319.1:c.40C>T, NM_001382319.1:c.40C>G, NM_001382320.1:c.*12C>T, NM_001382320.1:c.*12C>G, NM_001382321.1:c.40C>T, NM_001382321.1:c.40C>G, NP_068764.3:p.Pro30Ser, NP_068764.3:p.Pro30Ala, XP_011513103.1:p.Pro335Ser, XP_011513103.1:p.Pro335Ala, XP_016866669.1:p.Pro137Ser, XP_016866669.1:p.Pro137Ala, NP_056297.1:p.Pro311Ser, NP_056297.1:p.Pro311Ala, XP_016866675.1:p.Pro30Ser, XP_016866675.1:p.Pro30Ala, NP_001273385.1:p.Pro311Ser, NP_001273385.1:p.Pro311Ala, NP_001273384.1:p.Pro30Ser, NP_001273384.1:p.Pro30Ala, NP_001369247.1:p.Pro14Ser, NP_001369247.1:p.Pro14Ala, NP_001369246.1:p.Pro311Ser, NP_001369246.1:p.Pro311Ala, NP_001369248.1:p.Pro14Ser, NP_001369248.1:p.Pro14Ala, NP_001369250.1:p.Pro14Ser, NP_001369250.1:p.Pro14Ala

Select item 144124022718.

rs1441240227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:3273090 (GRCh38)
6:3273324 (GRCh37)
Canonical SPDI:: NC_000006.12:3273089:C:T
Gene:: SLC22A23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000013/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.3273090C>T, NC_000006.11:g.3273324C>T, NM_021945.6:c.1183G>A, NM_021945.5:c.1183G>A, XM_011514801.3:c.2098G>A, XM_011514801.2:c.2098G>A, XM_011514801.1:c.2098G>A, XM_017011180.2:c.1504G>A, XM_017011180.1:c.1504G>A, NM_015482.2:c.2026G>A, NM_015482.1:c.2026G>A, XM_017011186.2:c.1183G>A, XM_017011186.1:c.1183G>A, XM_017011184.2:c.1081G>A, XM_017011184.1:c.1081G>A, XM_047419243.1:c.1081G>A, NR_168069.1:n.2258G>A, NM_001286455.1:c.1183G>A, XM_047419241.1:c.1081G>A, XM_047419242.1:c.1081G>A, NR_104448.1:n.1620G>A, NM_001382318.1:c.1135G>A, NP_068764.3:p.Glu395Lys, XP_011513103.1:p.Glu700Lys, XP_016866669.1:p.Glu502Lys, NP_056297.1:p.Glu676Lys, XP_016866675.1:p.Glu395Lys, XP_016866673.1:p.Glu361Lys, XP_047275199.1:p.Glu361Lys, NP_001273384.1:p.Glu395Lys, XP_047275197.1:p.Glu361Lys, XP_047275198.1:p.Glu361Lys, NP_001369247.1:p.Glu379Lys

Select item 144051333619.

rs1440513336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:3410214 (GRCh38)
6:3410448 (GRCh37)
Canonical SPDI:: NC_000006.12:3410213:C:T
Gene:: SLC22A23 (Varview), LOC105374890 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.3410214C>T, NC_000006.11:g.3410448C>T, NM_021945.6:c.44G>A, NM_021945.5:c.44G>A, XM_011514801.3:c.959G>A, XM_011514801.2:c.959G>A, XM_011514801.1:c.959G>A, XM_017011185.3:c.959G>A, XM_017011185.2:c.959G>A, XM_017011185.1:c.959G>A, XM_017011180.2:c.365G>A, XM_017011180.1:c.365G>A, NM_015482.2:c.887G>A, NM_015482.1:c.887G>A, XM_017011186.2:c.44G>A, XM_017011186.1:c.44G>A, NM_001286456.2:c.887G>A, NM_001286456.1:c.887G>A, XM_017011183.2:c.959G>A, XM_017011183.1:c.959G>A, XR_001743575.2:n.1450G>A, XR_001743575.1:n.959G>A, NM_001286455.1:c.44G>A, NR_104448.1:n.428G>A, NM_001382317.1:c.887G>A, XR_007059328.1:n.1450G>A, NP_068764.3:p.Gly15Glu, XP_011513103.1:p.Gly320Glu, XP_016866674.1:p.Gly320Glu, XP_016866669.1:p.Gly122Glu, NP_056297.1:p.Gly296Glu, XP_016866675.1:p.Gly15Glu, NP_001273385.1:p.Gly296Glu, XP_016866672.1:p.Gly320Glu, NP_001273384.1:p.Gly15Glu, NP_001369246.1:p.Gly296Glu

Select item 143363352920.

rs1433633529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:3298112 (GRCh38)
6:3298346 (GRCh37)
Canonical SPDI:: NC_000006.12:3298111:C:T
Gene:: SLC22A23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.3298112C>T, NC_000006.11:g.3298346C>T, NM_021945.6:c.346G>A, NM_021945.5:c.346G>A, XM_011514801.3:c.1261G>A, XM_011514801.2:c.1261G>A, XM_011514801.1:c.1261G>A, XM_017011180.2:c.667G>A, XM_017011180.1:c.667G>A, NM_015482.2:c.1189G>A, NM_015482.1:c.1189G>A, XM_017011186.2:c.346G>A, XM_017011186.1:c.346G>A, XM_017011184.2:c.244G>A, XM_017011184.1:c.244G>A, XM_047419243.1:c.244G>A, NR_168069.1:n.1421G>A, NM_001286455.1:c.346G>A, XM_047419241.1:c.244G>A, XM_047419242.1:c.244G>A, NR_104448.1:n.783G>A, NM_001382318.1:c.298G>A, NM_001382317.1:c.1189G>A, NM_001382319.1:c.298G>A, NP_068764.3:p.Asp116Asn, XP_011513103.1:p.Asp421Asn, XP_016866669.1:p.Asp223Asn, NP_056297.1:p.Asp397Asn, XP_016866675.1:p.Asp116Asn, XP_016866673.1:p.Asp82Asn, XP_047275199.1:p.Asp82Asn, NP_001273384.1:p.Asp116Asn, XP_047275197.1:p.Asp82Asn, XP_047275198.1:p.Asp82Asn, NP_001369247.1:p.Asp100Asn, NP_001369246.1:p.Asp397Asn, NP_001369248.1:p.Asp100Asn

<< First< Prev

Page of 22

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 438

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity