SNP Links for Protein (Select 323714265) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 461

<< First< Prev

Page of 24

Select item 14891874031.

rs1489187403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47857614 (GRCh38)
12:48251397 (GRCh37)
Canonical SPDI:: NC_000012.12:47857613:C:T
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.47857614C>T, NC_000012.11:g.48251397C>T, NG_008731.1:g.52418G>A, NM_000376.3:c.352G>A, NM_000376.2:c.352G>A, NM_001017536.2:c.502G>A, NM_001017536.1:c.502G>A, NM_001017535.2:c.352G>A, NM_001017535.1:c.352G>A, NM_001364085.2:c.352G>A, NM_001364085.1:c.352G>A, NM_001374661.1:c.352G>A, NM_001374662.1:c.352G>A, XM_024449178.2:c.421G>A, XM_024449178.1:c.421G>A, XM_047429500.1:c.352G>A, NP_000367.1:p.Asp118Asn, NP_001017536.1:p.Asp168Asn, NP_001017535.1:p.Asp118Asn, NP_001351014.1:p.Asp118Asn, NP_001361590.1:p.Asp118Asn, NP_001361591.1:p.Asp118Asn, XP_024304946.1:p.Asp141Asn, XP_047285456.1:p.Asp118Asn

Select item 14852303212.

rs1485230321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47865171 (GRCh38)
12:48258954 (GRCh37)
Canonical SPDI:: NC_000012.12:47865170:G:A
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.47865171G>A, NC_000012.11:g.48258954G>A, NG_008731.1:g.44861C>T, NM_000376.3:c.153C>T, NM_000376.2:c.153C>T, NM_001017536.2:c.303C>T, NM_001017536.1:c.303C>T, NM_001017535.2:c.153C>T, NM_001017535.1:c.153C>T, NM_001364085.2:c.153C>T, NM_001364085.1:c.153C>T, NM_001374661.1:c.153C>T, NM_001374662.1:c.153C>T, XM_024449178.2:c.222C>T, XM_024449178.1:c.222C>T, XM_047429500.1:c.153C>T

Select item 14850686423.

rs1485068642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:47857233 (GRCh38)
12:48251016 (GRCh37)
Canonical SPDI:: NC_000012.12:47857232:T:G
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47857233T>G, NC_000012.11:g.48251016T>G, NG_008731.1:g.52799A>C, NM_000376.3:c.479A>C, NM_000376.2:c.479A>C, NM_001017536.2:c.629A>C, NM_001017536.1:c.629A>C, NM_001017535.2:c.479A>C, NM_001017535.1:c.479A>C, NM_001364085.2:c.479A>C, NM_001364085.1:c.479A>C, NM_001374661.1:c.479A>C, NM_001374662.1:c.479A>C, XM_024449178.2:c.548A>C, XM_024449178.1:c.548A>C, XM_047429500.1:c.479A>C, NP_000367.1:p.Asn160Thr, NP_001017536.1:p.Asn210Thr, NP_001017535.1:p.Asn160Thr, NP_001351014.1:p.Asn160Thr, NP_001361590.1:p.Asn160Thr, NP_001361591.1:p.Asn160Thr, XP_024304946.1:p.Asn183Thr, XP_047285456.1:p.Asn160Thr

Select item 14848108404.

rs1484810840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47865123 (GRCh38)
12:48258906 (GRCh37)
Canonical SPDI:: NC_000012.12:47865122:G:A
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000685/2 (KOREAN)
HGVS:: NC_000012.12:g.47865123G>A, NC_000012.11:g.48258906G>A, NG_008731.1:g.44909C>T, NM_000376.3:c.201C>T, NM_000376.2:c.201C>T, NM_001017536.2:c.351C>T, NM_001017536.1:c.351C>T, NM_001017535.2:c.201C>T, NM_001017535.1:c.201C>T, NM_001364085.2:c.201C>T, NM_001364085.1:c.201C>T, NM_001374661.1:c.201C>T, NM_001374662.1:c.201C>T, XM_024449178.2:c.270C>T, XM_024449178.1:c.270C>T, XM_047429500.1:c.201C>T

Select item 14847372545.

rs1484737254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47855653 (GRCh38)
12:48249436 (GRCh37)
Canonical SPDI:: NC_000012.12:47855652:A:G
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47855653A>G, NC_000012.11:g.48249436A>G, NG_008731.1:g.54379T>C, NM_000376.3:c.732T>C, NM_000376.2:c.732T>C, NM_001017536.2:c.882T>C, NM_001017536.1:c.882T>C, NM_001017535.2:c.732T>C, NM_001017535.1:c.732T>C, NM_001364085.2:c.732T>C, NM_001364085.1:c.732T>C, NM_001374661.1:c.732T>C, NM_001374662.1:c.732T>C, XM_024449178.2:c.801T>C, XM_024449178.1:c.801T>C, XM_047429500.1:c.732T>C

Select item 14818910566.

rs1481891056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:47904604 (GRCh38)
12:48298387 (GRCh37)
Canonical SPDI:: NC_000012.12:47904603:G:A,NC_000012.12:47904603:G:C
Gene:: VDR (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47904604G>A, NC_000012.12:g.47904604G>C, NC_000012.11:g.48298387G>A, NC_000012.11:g.48298387G>C, NG_008731.1:g.5428C>T, NG_008731.1:g.5428C>G, NM_001017536.2:c.27C>T, NM_001017536.2:c.27C>G, NM_001017536.1:c.27C>T, NM_001017536.1:c.27C>G, NM_001374661.1:c.-165C>T, NM_001374661.1:c.-165C>G, XM_024449178.2:c.27C>T, XM_024449178.2:c.27C>G, XM_024449178.1:c.27C>T, XM_024449178.1:c.27C>G, NP_001017536.1:p.Ser9Arg, XP_024304946.1:p.Ser9Arg

Select item 14813437967.

rs1481343796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:47904591 (GRCh38)
12:48298374 (GRCh37)
Canonical SPDI:: NC_000012.12:47904590:T:G
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000022/3 (GnomAD_exomes)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.47904591T>G, NC_000012.11:g.48298374T>G, NG_008731.1:g.5441A>C, NM_001017536.2:c.40A>C, NM_001017536.1:c.40A>C, NM_001374661.1:c.-152A>C, XM_024449178.2:c.40A>C, XM_024449178.1:c.40A>C, NP_001017536.1:p.Met14Leu, XP_024304946.1:p.Met14Leu

Select item 14779258878.

rs1477925887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47846425 (GRCh38)
12:48240208 (GRCh37)
Canonical SPDI:: NC_000012.12:47846424:G:A
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.47846425G>A, NC_000012.11:g.48240208G>A, NG_008731.1:g.63607C>T, NM_000376.3:c.934C>T, NM_000376.2:c.934C>T, NM_001017536.2:c.1084C>T, NM_001017536.1:c.1084C>T, NM_001017535.2:c.934C>T, NM_001017535.1:c.934C>T, NM_001364085.2:c.934C>T, NM_001364085.1:c.934C>T, NM_001374661.1:c.934C>T, NM_001374662.1:c.934C>T, XM_024449178.2:c.1003C>T, XM_024449178.1:c.1003C>T, XM_047429500.1:c.934C>T, NP_000367.1:p.Pro312Ser, NP_001017536.1:p.Pro362Ser, NP_001017535.1:p.Pro312Ser, NP_001351014.1:p.Pro312Ser, NP_001361590.1:p.Pro312Ser, NP_001361591.1:p.Pro312Ser, XP_024304946.1:p.Pro335Ser, XP_047285456.1:p.Pro312Ser

Select item 14776200559.

rs1477620055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:47844951 (GRCh38)
12:48238734 (GRCh37)
Canonical SPDI:: NC_000012.12:47844950:G:C
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47844951G>C, NC_000012.11:g.48238734G>C, NG_008731.1:g.65081C>G, NM_000376.3:c.1079C>G, NM_000376.2:c.1079C>G, NM_001017536.2:c.1229C>G, NM_001017536.1:c.1229C>G, NM_001017535.2:c.1079C>G, NM_001017535.1:c.1079C>G, NM_001364085.2:c.1079C>G, NM_001364085.1:c.1079C>G, NM_001374661.1:c.1079C>G, NM_001374662.1:c.1079C>G, XM_024449178.2:c.1148C>G, XM_024449178.1:c.1148C>G, XM_047429500.1:c.1079C>G, NP_000367.1:p.Ser360Cys, NP_001017536.1:p.Ser410Cys, NP_001017535.1:p.Ser360Cys, NP_001351014.1:p.Ser360Cys, NP_001361590.1:p.Ser360Cys, NP_001361591.1:p.Ser360Cys, XP_024304946.1:p.Ser383Cys, XP_047285456.1:p.Ser360Cys

Select item 147437485410.

rs1474374854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47865055 (GRCh38)
12:48258838 (GRCh37)
Canonical SPDI:: NC_000012.12:47865054:A:G
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47865055A>G, NC_000012.11:g.48258838A>G, NG_008731.1:g.44977T>C, NM_000376.3:c.269T>C, NM_000376.2:c.269T>C, NM_001017536.2:c.419T>C, NM_001017536.1:c.419T>C, NM_001017535.2:c.269T>C, NM_001017535.1:c.269T>C, NM_001364085.2:c.269T>C, NM_001364085.1:c.269T>C, NM_001374661.1:c.269T>C, NM_001374662.1:c.269T>C, XM_024449178.2:c.338T>C, XM_024449178.1:c.338T>C, XM_047429500.1:c.269T>C, NP_000367.1:p.Met90Thr, NP_001017536.1:p.Met140Thr, NP_001017535.1:p.Met90Thr, NP_001351014.1:p.Met90Thr, NP_001361590.1:p.Met90Thr, NP_001361591.1:p.Met90Thr, XP_024304946.1:p.Met113Thr, XP_047285456.1:p.Met90Thr

Select item 147259164111.

rs1472591641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:47844847 (GRCh38)
12:48238630 (GRCh37)
Canonical SPDI:: NC_000012.12:47844846:C:G
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.47844847C>G, NC_000012.11:g.48238630C>G, NG_008731.1:g.65185G>C, NM_000376.3:c.1183G>C, NM_000376.2:c.1183G>C, NM_001017536.2:c.1333G>C, NM_001017536.1:c.1333G>C, NM_001017535.2:c.1183G>C, NM_001017535.1:c.1183G>C, NM_001364085.2:c.1183G>C, NM_001364085.1:c.1183G>C, NM_001374661.1:c.1183G>C, NM_001374662.1:c.1183G>C, XM_024449178.2:c.1252G>C, XM_024449178.1:c.1252G>C, XM_047429500.1:c.1183G>C, NP_000367.1:p.Glu395Gln, NP_001017536.1:p.Glu445Gln, NP_001017535.1:p.Glu395Gln, NP_001351014.1:p.Glu395Gln, NP_001361590.1:p.Glu395Gln, NP_001361591.1:p.Glu395Gln, XP_024304946.1:p.Glu418Gln, XP_047285456.1:p.Glu395Gln

Select item 147173413512.

rs1471734135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47879108 (GRCh38)
12:48272891 (GRCh37)
Canonical SPDI:: NC_000012.12:47879107:C:T
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.47879108C>T, NC_000012.11:g.48272891C>T, NG_008731.1:g.30924G>A, NM_000376.3:c.6G>A, NM_000376.2:c.6G>A, NM_001017536.2:c.156G>A, NM_001017536.1:c.156G>A, NM_001017535.2:c.6G>A, NM_001017535.1:c.6G>A, NM_001364085.2:c.6G>A, NM_001364085.1:c.6G>A, NM_001374661.1:c.6G>A, NM_001374662.1:c.6G>A, XM_024449178.2:c.75G>A, XM_024449178.1:c.75G>A, XM_047429500.1:c.6G>A

Select item 147055833113.

rs1470558331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47857619 (GRCh38)
12:48251402 (GRCh37)
Canonical SPDI:: NC_000012.12:47857618:A:G
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47857619A>G, NC_000012.11:g.48251402A>G, NG_008731.1:g.52413T>C, NM_000376.3:c.347T>C, NM_000376.2:c.347T>C, NM_001017536.2:c.497T>C, NM_001017536.1:c.497T>C, NM_001017535.2:c.347T>C, NM_001017535.1:c.347T>C, NM_001364085.2:c.347T>C, NM_001364085.1:c.347T>C, NM_001374661.1:c.347T>C, NM_001374662.1:c.347T>C, XM_024449178.2:c.416T>C, XM_024449178.1:c.416T>C, XM_047429500.1:c.347T>C, NP_000367.1:p.Leu116Ser, NP_001017536.1:p.Leu166Ser, NP_001017535.1:p.Leu116Ser, NP_001351014.1:p.Leu116Ser, NP_001361590.1:p.Leu116Ser, NP_001361591.1:p.Leu116Ser, XP_024304946.1:p.Leu139Ser, XP_047285456.1:p.Leu116Ser

Select item 147002543914.

rs1470025439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:47882712 (GRCh38)
12:48276495 (GRCh37)
Canonical SPDI:: NC_000012.12:47882711:G:C
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.47882712G>C, NC_000012.11:g.48276495G>C, NG_008731.1:g.27320C>G, NM_000376.3:c.-21C>G, NM_000376.2:c.-21C>G, NM_001017536.2:c.130C>G, NM_001017536.1:c.130C>G, NM_001017535.2:c.-21C>G, NM_001017535.1:c.-21C>G, NM_001364085.2:c.-21C>G, NM_001364085.1:c.-21C>G, XM_047429500.1:c.-21C>G, NP_001017536.1:p.Leu44Val

Select item 146829040015.

rs1468290400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47846703 (GRCh38)
12:48240486 (GRCh37)
Canonical SPDI:: NC_000012.12:47846702:G:A
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47846703G>A, NC_000012.11:g.48240486G>A, NG_008731.1:g.63329C>T, NM_000376.3:c.861C>T, NM_000376.2:c.861C>T, NM_001017536.2:c.1011C>T, NM_001017536.1:c.1011C>T, NM_001017535.2:c.861C>T, NM_001017535.1:c.861C>T, NM_001364085.2:c.861C>T, NM_001364085.1:c.861C>T, NM_001374661.1:c.861C>T, NM_001374662.1:c.861C>T, XM_024449178.2:c.930C>T, XM_024449178.1:c.930C>T, XM_047429500.1:c.861C>T

Select item 146788264916.

rs1467882649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:47846381 (GRCh38)
12:48240164 (GRCh37)
Canonical SPDI:: NC_000012.12:47846380:A:C,NC_000012.12:47846380:A:T
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.47846381A>C, NC_000012.12:g.47846381A>T, NC_000012.11:g.48240164A>C, NC_000012.11:g.48240164A>T, NG_008731.1:g.63651T>G, NG_008731.1:g.63651T>A, NM_000376.3:c.978T>G, NM_000376.3:c.978T>A, NM_000376.2:c.978T>G, NM_000376.2:c.978T>A, NM_001017536.2:c.1128T>G, NM_001017536.2:c.1128T>A, NM_001017536.1:c.1128T>G, NM_001017536.1:c.1128T>A, NM_001017535.2:c.978T>G, NM_001017535.2:c.978T>A, NM_001017535.1:c.978T>G, NM_001017535.1:c.978T>A, NM_001364085.2:c.978T>G, NM_001364085.2:c.978T>A, NM_001364085.1:c.978T>G, NM_001364085.1:c.978T>A, NM_001374661.1:c.978T>G, NM_001374661.1:c.978T>A, NM_001374662.1:c.978T>G, NM_001374662.1:c.978T>A, XM_024449178.2:c.1047T>G, XM_024449178.2:c.1047T>A, XM_024449178.1:c.1047T>G, XM_024449178.1:c.1047T>A, XM_047429500.1:c.978T>G, XM_047429500.1:c.978T>A, NP_000367.1:p.His326Gln, NP_000367.1:p.His326Gln, NP_001017536.1:p.His376Gln, NP_001017536.1:p.His376Gln, NP_001017535.1:p.His326Gln, NP_001017535.1:p.His326Gln, NP_001351014.1:p.His326Gln, NP_001351014.1:p.His326Gln, NP_001361590.1:p.His326Gln, NP_001361590.1:p.His326Gln, NP_001361591.1:p.His326Gln, NP_001361591.1:p.His326Gln, XP_024304946.1:p.His349Gln, XP_024304946.1:p.His349Gln, XP_047285456.1:p.His326Gln, XP_047285456.1:p.His326Gln

Select item 146751544517.

rs1467515445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:47857158 (GRCh38)
12:48250941 (GRCh37)
Canonical SPDI:: NC_000012.12:47857157:G:C
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47857158G>C, NC_000012.11:g.48250941G>C, NG_008731.1:g.52874C>G, NM_000376.3:c.554C>G, NM_000376.2:c.554C>G, NM_001017536.2:c.704C>G, NM_001017536.1:c.704C>G, NM_001017535.2:c.554C>G, NM_001017535.1:c.554C>G, NM_001364085.2:c.554C>G, NM_001364085.1:c.554C>G, NM_001374661.1:c.554C>G, NM_001374662.1:c.554C>G, XM_024449178.2:c.623C>G, XM_024449178.1:c.623C>G, XM_047429500.1:c.554C>G, NP_000367.1:p.Ser185Cys, NP_001017536.1:p.Ser235Cys, NP_001017535.1:p.Ser185Cys, NP_001351014.1:p.Ser185Cys, NP_001361590.1:p.Ser185Cys, NP_001361591.1:p.Ser185Cys, XP_024304946.1:p.Ser208Cys, XP_047285456.1:p.Ser185Cys

Select item 146604786818.

rs1466047868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47879070 (GRCh38)
12:48272853 (GRCh37)
Canonical SPDI:: NC_000012.12:47879069:T:C
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47879070T>C, NC_000012.11:g.48272853T>C, NG_008731.1:g.30962A>G, NM_000376.3:c.44A>G, NM_000376.2:c.44A>G, NM_001017536.2:c.194A>G, NM_001017536.1:c.194A>G, NM_001017535.2:c.44A>G, NM_001017535.1:c.44A>G, NM_001364085.2:c.44A>G, NM_001364085.1:c.44A>G, NM_001374661.1:c.44A>G, NM_001374662.1:c.44A>G, XM_024449178.2:c.113A>G, XM_024449178.1:c.113A>G, XM_047429500.1:c.44A>G, NP_000367.1:p.Asp15Gly, NP_001017536.1:p.Asp65Gly, NP_001017535.1:p.Asp15Gly, NP_001351014.1:p.Asp15Gly, NP_001361590.1:p.Asp15Gly, NP_001361591.1:p.Asp15Gly, XP_024304946.1:p.Asp38Gly, XP_047285456.1:p.Asp15Gly

Select item 146392081119.

rs1463920811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47878998 (GRCh38)
12:48272781 (GRCh37)
Canonical SPDI:: NC_000012.12:47878997:A:G
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47878998A>G, NC_000012.11:g.48272781A>G, NG_008731.1:g.31034T>C, NM_000376.3:c.116T>C, NM_000376.2:c.116T>C, NM_001017536.2:c.266T>C, NM_001017536.1:c.266T>C, NM_001017535.2:c.116T>C, NM_001017535.1:c.116T>C, NM_001364085.2:c.116T>C, NM_001364085.1:c.116T>C, NM_001374661.1:c.116T>C, NM_001374662.1:c.116T>C, XM_024449178.2:c.185T>C, XM_024449178.1:c.185T>C, XM_047429500.1:c.116T>C, NP_000367.1:p.Met39Thr, NP_001017536.1:p.Met89Thr, NP_001017535.1:p.Met39Thr, NP_001351014.1:p.Met39Thr, NP_001361590.1:p.Met39Thr, NP_001361591.1:p.Met39Thr, XP_024304946.1:p.Met62Thr, XP_047285456.1:p.Met39Thr

Select item 146292682720.

rs1462926827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:47857623 (GRCh38)
12:48251406 (GRCh37)
Canonical SPDI:: NC_000012.12:47857622:C:A
Gene:: VDR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.47857623C>A, NC_000012.11:g.48251406C>A, NG_008731.1:g.52409G>T, NM_000376.3:c.343G>T, NM_000376.2:c.343G>T, NM_001017536.2:c.493G>T, NM_001017536.1:c.493G>T, NM_001017535.2:c.343G>T, NM_001017535.1:c.343G>T, NM_001364085.2:c.343G>T, NM_001364085.1:c.343G>T, NM_001374661.1:c.343G>T, NM_001374662.1:c.343G>T, XM_024449178.2:c.412G>T, XM_024449178.1:c.412G>T, XM_047429500.1:c.343G>T, NP_000367.1:p.Ala115Ser, NP_001017536.1:p.Ala165Ser, NP_001017535.1:p.Ala115Ser, NP_001351014.1:p.Ala115Ser, NP_001361590.1:p.Ala115Ser, NP_001361591.1:p.Ala115Ser, XP_024304946.1:p.Ala138Ser, XP_047285456.1:p.Ala115Ser

<< First< Prev

Page of 24

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 323714265) (461)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...