SNP Links for Nucleotide (Select 1034616776) - SNP

Links from Nucleotide

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Select item 14909305191.

rs1490930519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:196893245 (GRCh38)
2:197757969 (GRCh37)
Canonical SPDI:: NC_000002.12:196893244:T:A,NC_000002.12:196893244:T:C
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.196893245T>A, NC_000002.12:g.196893245T>C, NC_000002.11:g.197757969T>A, NC_000002.11:g.197757969T>C, NG_046780.1:g.38751A>T, NG_046780.1:g.38751A>G, NM_024989.4:c.928A>T, NM_024989.4:c.928A>G, NM_024989.3:c.928A>T, NM_024989.3:c.928A>G, NM_001321099.2:c.406A>T, NM_001321099.2:c.406A>G, NM_001321099.1:c.406A>T, NM_001321099.1:c.406A>G, NM_001321100.2:c.-184A>T, NM_001321100.2:c.-184A>G, NM_001321100.1:c.-184A>T, NM_001321100.1:c.-184A>G, XM_017004993.2:c.406A>T, XM_017004993.2:c.406A>G, XM_017004993.1:c.406A>T, XM_017004993.1:c.406A>G, XR_001738960.2:n.1019A>T, XR_001738960.2:n.1019A>G, XR_001738960.1:n.1307A>T, XR_001738960.1:n.1307A>G, XM_017004992.1:c.406A>T, XM_017004992.1:c.406A>G, XM_047445910.1:c.928A>T, XM_047445910.1:c.928A>G, XR_007082522.1:n.1019A>T, XR_007082522.1:n.1019A>G, NP_079265.2:p.Ile310Leu, NP_079265.2:p.Ile310Val, NP_001308028.1:p.Ile136Leu, NP_001308028.1:p.Ile136Val, XP_016860482.1:p.Ile136Leu, XP_016860482.1:p.Ile136Val, XP_016860481.1:p.Ile136Leu, XP_016860481.1:p.Ile136Val, XP_047301866.1:p.Ile310Leu, XP_047301866.1:p.Ile310Val

Select item 14907275052.

rs1490727505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:196838734 (GRCh38)
2:197703458 (GRCh37)
Canonical SPDI:: NC_000002.12:196838733:T:C
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000064/9 (GnomAD)
HGVS:: NC_000002.12:g.196838734T>C, NC_000002.11:g.197703458T>C, NG_046780.1:g.93262A>G, NM_024989.4:c.*2500A>G, NM_024989.3:c.*2500A>G, NM_001321099.2:c.*2500A>G, NM_001321099.1:c.*2500A>G, NM_001321100.2:c.*2500A>G, NM_001321100.1:c.*2500A>G, XM_017004993.2:c.*2500A>G, XM_017004993.1:c.*2500A>G, XM_017004992.1:c.*2500A>G

Select item 14907117013.

rs1490711701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:196837636 (GRCh38)
2:197702360 (GRCh37)
Canonical SPDI:: NC_000002.12:196837635:A:G
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.196837636A>G, NC_000002.11:g.197702360A>G, NG_046780.1:g.94360T>C, NM_024989.4:c.*3598T>C, NM_024989.3:c.*3598T>C, NM_001321099.2:c.*3598T>C, NM_001321099.1:c.*3598T>C, NM_001321100.2:c.*3598T>C, NM_001321100.1:c.*3598T>C, XM_017004993.2:c.*3598T>C, XM_017004993.1:c.*3598T>C, XM_017004992.1:c.*3598T>C

Select item 14906364874.

rs1490636487 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:196835980 (GRCh38)
2:197700704 (GRCh37)
Canonical SPDI:: NC_000002.12:196835979:AAAAA:AAAA
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.196835984del, NC_000002.11:g.197700708del, NG_046780.1:g.96016del, NM_024989.4:c.*5254del, NM_024989.3:c.*5254del, NM_001321099.2:c.*5254del, NM_001321099.1:c.*5254del, NM_001321100.2:c.*5254del, NM_001321100.1:c.*5254del, XM_017004993.2:c.*5254del, XM_017004993.1:c.*5254del, XM_017004992.1:c.*5254del

Select item 14899612805.

rs1489961280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:196840868 (GRCh38)
2:197705592 (GRCh37)
Canonical SPDI:: NC_000002.12:196840867:A:G,NC_000002.12:196840867:A:T
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000002.12:g.196840868A>G, NC_000002.12:g.196840868A>T, NC_000002.11:g.197705592A>G, NC_000002.11:g.197705592A>T, NG_046780.1:g.91128T>C, NG_046780.1:g.91128T>A, NM_024989.4:c.*366T>C, NM_024989.4:c.*366T>A, NM_024989.3:c.*366T>C, NM_024989.3:c.*366T>A, NM_001321099.2:c.*366T>C, NM_001321099.2:c.*366T>A, NM_001321099.1:c.*366T>C, NM_001321099.1:c.*366T>A, NM_001321100.2:c.*366T>C, NM_001321100.2:c.*366T>A, NM_001321100.1:c.*366T>C, NM_001321100.1:c.*366T>A, XM_017004993.2:c.*366T>C, XM_017004993.2:c.*366T>A, XM_017004993.1:c.*366T>C, XM_017004993.1:c.*366T>A, XM_017004992.1:c.*366T>C, XM_017004992.1:c.*366T>A

Select item 14893403366.

rs1489340336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:196836000 (GRCh38)
2:197700724 (GRCh37)
Canonical SPDI:: NC_000002.12:196835999:G:C
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.196836000G>C, NC_000002.11:g.197700724G>C, NG_046780.1:g.95996C>G, NM_024989.4:c.*5234C>G, NM_024989.3:c.*5234C>G, NM_001321099.2:c.*5234C>G, NM_001321099.1:c.*5234C>G, NM_001321100.2:c.*5234C>G, NM_001321100.1:c.*5234C>G, XM_017004993.2:c.*5234C>G, XM_017004993.1:c.*5234C>G, XM_017004992.1:c.*5234C>G

Select item 14893102627.

rs1489310262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:196836148 (GRCh38)
2:197700872 (GRCh37)
Canonical SPDI:: NC_000002.12:196836147:G:A
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000002.12:g.196836148G>A, NC_000002.11:g.197700872G>A, NG_046780.1:g.95848C>T, NM_024989.4:c.*5086C>T, NM_024989.3:c.*5086C>T, NM_001321099.2:c.*5086C>T, NM_001321099.1:c.*5086C>T, NM_001321100.2:c.*5086C>T, NM_001321100.1:c.*5086C>T, XM_017004993.2:c.*5086C>T, XM_017004993.1:c.*5086C>T, XM_017004992.1:c.*5086C>T

Select item 14882878318.

rs1488287831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:196839534 (GRCh38)
2:197704258 (GRCh37)
Canonical SPDI:: NC_000002.12:196839533:T:C
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000283/5 (TOMMO)
HGVS:: NC_000002.12:g.196839534T>C, NC_000002.11:g.197704258T>C, NG_046780.1:g.92462A>G, NM_024989.4:c.*1700A>G, NM_024989.3:c.*1700A>G, NM_001321099.2:c.*1700A>G, NM_001321099.1:c.*1700A>G, NM_001321100.2:c.*1700A>G, NM_001321100.1:c.*1700A>G, XM_017004993.2:c.*1700A>G, XM_017004993.1:c.*1700A>G, XM_017004992.1:c.*1700A>G

Select item 14881812179.

rs1488181217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:196847951 (GRCh38)
2:197712675 (GRCh37)
Canonical SPDI:: NC_000002.12:196847950:A:G,NC_000002.12:196847950:A:T
Gene:: PGAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.196847951A>G, NC_000002.12:g.196847951A>T, NC_000002.11:g.197712675A>G, NC_000002.11:g.197712675A>T, NG_046780.1:g.84045T>C, NG_046780.1:g.84045T>A, NM_024989.4:c.1948T>C, NM_024989.4:c.1948T>A, NM_024989.3:c.1948T>C, NM_024989.3:c.1948T>A, NM_001321099.2:c.1426T>C, NM_001321099.2:c.1426T>A, NM_001321099.1:c.1426T>C, NM_001321099.1:c.1426T>A, NM_001321100.2:c.781T>C, NM_001321100.2:c.781T>A, NM_001321100.1:c.781T>C, NM_001321100.1:c.781T>A, XM_017004993.2:c.1426T>C, XM_017004993.2:c.1426T>A, XM_017004993.1:c.1426T>C, XM_017004993.1:c.1426T>A, XM_017004992.1:c.1426T>C, XM_017004992.1:c.1426T>A, XR_007082522.1:n.1945T>C, XR_007082522.1:n.1945T>A, NP_079265.2:p.Leu650Met, NP_001308028.1:p.Leu476Met, NP_001308029.1:p.Leu261Met, XP_016860482.1:p.Leu476Met, XP_016860481.1:p.Leu476Met

Select item 148817979910.

rs1488179799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:196873713 (GRCh38)
2:197738437 (GRCh37)
Canonical SPDI:: NC_000002.12:196873712:T:C
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000002.12:g.196873713T>C, NC_000002.11:g.197738437T>C, NG_046780.1:g.58283A>G, NM_024989.4:c.1472A>G, NM_024989.3:c.1472A>G, NM_001321099.2:c.950A>G, NM_001321099.1:c.950A>G, NM_001321100.2:c.305A>G, NM_001321100.1:c.305A>G, XM_017004993.2:c.950A>G, XM_017004993.1:c.950A>G, XM_017004992.1:c.950A>G, XR_007082522.1:n.1563A>G, NP_079265.2:p.Tyr491Cys, NP_001308028.1:p.Tyr317Cys, NP_001308029.1:p.Tyr102Cys, XP_016860482.1:p.Tyr317Cys, XP_016860481.1:p.Tyr317Cys

Select item 148786079811.

rs1487860798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:196847977 (GRCh38)
2:197712701 (GRCh37)
Canonical SPDI:: NC_000002.12:196847976:G:C
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.196847977G>C, NC_000002.11:g.197712701G>C, NG_046780.1:g.84019C>G, NM_024989.4:c.1922C>G, NM_024989.3:c.1922C>G, NM_001321099.2:c.1400C>G, NM_001321099.1:c.1400C>G, NM_001321100.2:c.755C>G, NM_001321100.1:c.755C>G, XM_017004993.2:c.1400C>G, XM_017004993.1:c.1400C>G, XM_017004992.1:c.1400C>G, XR_007082522.1:n.1919C>G, NP_079265.2:p.Pro641Arg, NP_001308028.1:p.Pro467Arg, NP_001308029.1:p.Pro252Arg, XP_016860482.1:p.Pro467Arg, XP_016860481.1:p.Pro467Arg

Select item 148767116812.

rs1487671168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:196835597 (GRCh38)
2:197700322 (GRCh37)
Canonical SPDI:: NC_000002.12:196835597:AAA:AAAA
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.196835600dup, NC_000002.11:g.197700324dup, NG_046780.1:g.96398dup, NM_024989.4:c.*5636dup, NM_024989.3:c.*5636dup, NM_001321099.2:c.*5636dup, NM_001321099.1:c.*5636dup, NM_001321100.2:c.*5636dup, NM_001321100.1:c.*5636dup, XM_017004993.2:c.*5636dup, XM_017004993.1:c.*5636dup, XM_017004992.1:c.*5636dup

Select item 148762771113.

rs1487627711 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:196833877 (GRCh38)
2:197698602 (GRCh37)
Canonical SPDI:: NC_000002.12:196833877:TTTTTTT:TTTTTTTT
Gene:: PGAP1 (Varview), C2orf66 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.196833884dup, NC_000002.11:g.197698608dup, NG_046780.1:g.98118dup, NM_024989.4:c.*7356dup, NM_024989.3:c.*7356dup, NM_001321099.2:c.*7356dup, NM_001321099.1:c.*7356dup, NM_001321100.2:c.*7356dup, NM_001321100.1:c.*7356dup, XM_017004993.2:c.*7356dup, XM_017004993.1:c.*7356dup, XM_017004992.1:c.*7356dup

Select item 148697605614.

rs1486976056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:196838419 (GRCh38)
2:197703143 (GRCh37)
Canonical SPDI:: NC_000002.12:196838418:T:C
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.196838419T>C, NC_000002.11:g.197703143T>C, NG_046780.1:g.93577A>G, NM_024989.4:c.*2815A>G, NM_024989.3:c.*2815A>G, NM_001321099.2:c.*2815A>G, NM_001321099.1:c.*2815A>G, NM_001321100.2:c.*2815A>G, NM_001321100.1:c.*2815A>G, XM_017004993.2:c.*2815A>G, XM_017004993.1:c.*2815A>G, XM_017004992.1:c.*2815A>G

Select item 148673990615.

rs1486739906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:196834891 (GRCh38)
2:197699615 (GRCh37)
Canonical SPDI:: NC_000002.12:196834890:A:G
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.196834891A>G, NC_000002.11:g.197699615A>G, NG_046780.1:g.97105T>C, NM_024989.4:c.*6343T>C, NM_024989.3:c.*6343T>C, NM_001321099.2:c.*6343T>C, NM_001321099.1:c.*6343T>C, NM_001321100.2:c.*6343T>C, NM_001321100.1:c.*6343T>C, XM_017004993.2:c.*6343T>C, XM_017004993.1:c.*6343T>C, XM_017004992.1:c.*6343T>C

Select item 148598977416.

rs1485989774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:196833374 (GRCh38)
2:197698098 (GRCh37)
Canonical SPDI:: NC_000002.12:196833373:C:T
Gene:: PGAP1 (Varview), C2orf66 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.196833374C>T, NC_000002.11:g.197698098C>T, NG_046780.1:g.98622G>A, NM_024989.4:c.*7860G>A, NM_024989.3:c.*7860G>A, NM_001321099.2:c.*7860G>A, NM_001321099.1:c.*7860G>A, NM_001321100.2:c.*7860G>A, NM_001321100.1:c.*7860G>A, XM_017004993.2:c.*7860G>A, XM_017004993.1:c.*7860G>A, XM_017004992.1:c.*7860G>A

Select item 148589893117.

rs1485898931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:196893235 (GRCh38)
2:197757959 (GRCh37)
Canonical SPDI:: NC_000002.12:196893234:T:A
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_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_000002.12:g.196893235T>A, NC_000002.11:g.197757959T>A, NG_046780.1:g.38761A>T, NM_024989.4:c.938A>T, NM_024989.3:c.938A>T, NM_001321099.2:c.416A>T, NM_001321099.1:c.416A>T, NM_001321100.2:c.-174A>T, NM_001321100.1:c.-174A>T, XM_017004993.2:c.416A>T, XM_017004993.1:c.416A>T, XR_001738960.2:n.1029A>T, XR_001738960.1:n.1317A>T, XM_017004992.1:c.416A>T, XM_047445910.1:c.938A>T, XR_007082522.1:n.1029A>T, NP_079265.2:p.Asn313Ile, NP_001308028.1:p.Asn139Ile, XP_016860482.1:p.Asn139Ile, XP_016860481.1:p.Asn139Ile, XP_047301866.1:p.Asn313Ile

Select item 148582417218.

rs1485824172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:196843895 (GRCh38)
2:197708619 (GRCh37)
Canonical SPDI:: NC_000002.12:196843894:T:G
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.196843895T>G, NC_000002.11:g.197708619T>G, NG_046780.1:g.88101A>C, NM_024989.4:c.2518A>C, NM_024989.3:c.2518A>C, NM_001321099.2:c.1996A>C, NM_001321099.1:c.1996A>C, NM_001321100.2:c.1351A>C, NM_001321100.1:c.1351A>C, XM_017004993.2:c.1996A>C, XM_017004993.1:c.1996A>C, XM_017004992.1:c.1996A>C, NP_079265.2:p.Asn840His, NP_001308028.1:p.Asn666His, NP_001308029.1:p.Asn451His, XP_016860482.1:p.Asn666His, XP_016860481.1:p.Asn666His

Select item 148471133119.

rs1484711331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:196890891 (GRCh38)
2:197755615 (GRCh37)
Canonical SPDI:: NC_000002.12:196890890:A:G
Gene:: PGAP1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.196890891A>G, NC_000002.11:g.197755615A>G, NG_046780.1:g.41105T>C, NM_024989.4:c.1110T>C, NM_024989.3:c.1110T>C, NM_001321099.2:c.588T>C, NM_001321099.1:c.588T>C, NM_001321100.2:c.-58T>C, NM_001321100.1:c.-58T>C, XM_017004993.2:c.588T>C, XM_017004993.1:c.588T>C, XR_001738960.2:n.1201T>C, XR_001738960.1:n.1489T>C, XM_017004992.1:c.588T>C, XM_047445910.1:c.1110T>C, XR_007082522.1:n.1201T>C

Select item 148388791820.

rs1483887918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:196844063 (GRCh38)
2:197708787 (GRCh37)
Canonical SPDI:: NC_000002.12:196844062:A:C
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.196844063A>C, NC_000002.11:g.197708787A>C, NG_046780.1:g.87933T>G, NM_024989.4:c.2350T>G, NM_024989.3:c.2350T>G, NM_001321099.2:c.1828T>G, NM_001321099.1:c.1828T>G, NM_001321100.2:c.1183T>G, NM_001321100.1:c.1183T>G, XM_017004993.2:c.1828T>G, XM_017004993.1:c.1828T>G, XM_017004992.1:c.1828T>G, NP_079265.2:p.Ser784Ala, NP_001308028.1:p.Ser610Ala, NP_001308029.1:p.Ser395Ala, XP_016860482.1:p.Ser610Ala, XP_016860481.1:p.Ser610Ala

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