Linked Data
ClinVar Variation Id:
3520
ClinVar RCV Id:
RCV000003697
RCV000144921
RCV000153516
RCV000259890
RCV000427078
RCV000428048
RCV000761447
RCV001030751
dbSNP Id:
rs1801133
ExAC:
1:11856378 G / A
gnomAD v2:
1-11856378-G-A
gnomAD v3:
1-11796321-G-A
gnomAD v4:
1-11796321-G-A
CIViC:
CA170990
PubMed:
PMID:1522835
PMID:7564788
PMID:7647779
PMID:7741859
PMID:8542260
PMID:8554053
PMID:8554066
PMID:8616944
PMID:8771990
PMID:8826441
PMID:8837319
PMID:8892013
PMID:8903338
PMID:8981967
PMID:8994411
PMID:9133512
PMID:9192280
PMID:9244205
PMID:9341863
PMID:9372726
PMID:9453374
PMID:9545406
PMID:9737770
PMID:9789068
PMID:9798595
PMID:9843036
PMID:9863598
PMID:10196703
PMID:10323741
PMID:10440833
PMID:10732818
PMID:10869114
PMID:10930360
PMID:11121176
PMID:11140843
PMID:11418485
PMID:11781870
PMID:11807890
PMID:11863127
PMID:11888585
PMID:11929966
PMID:12080391
PMID:12095808
PMID:12154064
PMID:12165282
PMID:12196644
PMID:12221667
PMID:12356947
PMID:12383688
PMID:12384649
PMID:12387655
PMID:12400059
PMID:12406076
PMID:12428084
PMID:12453860
PMID:12529699
PMID:12560871
PMID:12796225
PMID:12915598
PMID:14647408
PMID:15051775
PMID:15054400
PMID:15103709
PMID:15154859
PMID:15173232
PMID:15534175
PMID:15565101
PMID:15704130
PMID:15729744
PMID:15781665
PMID:15806605
PMID:15808177
PMID:16013960
PMID:16019535
PMID:16172608
PMID:16365871
PMID:16402130
PMID:16462575
PMID:16463153
PMID:16470725
PMID:16501586
PMID:16712703
PMID:16800002
PMID:16870553
PMID:17180579
PMID:17284634
PMID:17323057
PMID:17350979
PMID:17436239
PMID:17488658
PMID:17512587
PMID:17543893
PMID:17726486
PMID:17898028
PMID:18458567
PMID:18583979
PMID:18704422
PMID:18987660
PMID:19159907
PMID:19307503
PMID:19648163
PMID:20154341
PMID:20638924
PMID:21605004
PMID:21644011
PMID:21747412
PMID:22143415
PMID:22838948
PMID:22992668
PMID:23089671
PMID:23488607
PMID:23648444
PMID:23775025
PMID:24241962
PMID:24637499
PMID:25007187
PMID:25065700
PMID:25110820
PMID:25227144
PMID:25303299
PMID:25778468
PMID:26014925
PMID:27399166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796321G>A , CM000663.2:g.11796321G>A | GRCh38 |
| NC_000001.10:g.11856378G>A , CM000663.1:g.11856378G>A | GRCh37 |
| NC_000001.9:g.11778965G>A | NCBI36 |
| NG_013351.1:g.14783C>T , LRG_726:g.14783C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376486.3:c.665C>T | ENSP00000365669.3:p.Ala222Val | |
| ENST00000376585.6:c.788C>T | ENSP00000365770.1:p.Ala263Val | |
| ENST00000376590.9:c.665C>T MANE Select | ENSP00000365775.3:p.Ala222Val | |
| ENST00000376592.6:c.665C>T | ENSP00000365777.1:p.Ala222Val | |
| ENST00000423400.7:c.785C>T | ENSP00000398908.3:p.Ala262Val | |
| ENST00000641407.1:c.665C>T | ENSP00000493098.1:p.Ala222Val | |
| ENST00000641446.1:c.665C>T | ENSP00000493262.1:p.Ala222Val | |
| ENST00000641721.1:n.644-973C>T | ||
| ENST00000641747.1:c.*177C>T | ENSP00000493116.1:n.*177C>T | |
| ENST00000641759.1:n.800C>T | ||
| ENST00000641805.1:n.948C>T | ||
| ENST00000641820.1:c.-71C>T | ENSP00000492937.1:n.-71C>T | |
| ENST00000376583.7:c.788C>T | ENSP00000365767.3:p.Ala263Val | |
| ENST00000376585.5:c.788C>T | ENSP00000365770.1:p.Ala263Val | |
| ENST00000376590.7:c.665C>T | ENSP00000365775.3:p.Ala222Val | |
| ENST00000376592.5:c.665C>T | ENSP00000365777.1:p.Ala222Val | |
| NM_005957.4:c.665C>T , LRG_726t1:c.665C>T | NP_005948.3:p.Ala222Val | |
| XM_005263458.2:c.788C>T | XP_005263515.1:p.Ala263Val | |
| XM_005263460.3:c.665C>T | XP_005263517.1:p.Ala222Val | |
| XM_005263461.3:c.665C>T | XP_005263518.1:p.Ala222Val | |
| XM_005263462.3:c.665C>T | XP_005263519.1:p.Ala222Val | |
| XM_005263463.2:c.419C>T | XP_005263520.1:p.Ala140Val | |
| XM_011541495.1:c.785C>T | XP_011539797.1:p.Ala262Val | |
| XM_011541496.1:c.788C>T | XP_011539798.1:p.Ala263Val | |
| NM_001330358.1:c.788C>T | NP_001317287.1:p.Ala263Val | |
| XM_005263460.5:c.665C>T | XP_005263517.1:p.Ala222Val | |
| XM_005263462.4:c.665C>T | XP_005263519.1:p.Ala222Val | |
| XM_005263463.4:c.419C>T | XP_005263520.1:p.Ala140Val | |
| XM_011541495.3:c.785C>T | XP_011539797.1:p.Ala262Val | |
| XM_011541496.3:c.788C>T | XP_011539798.1:p.Ala263Val | |
| XM_017001328.2:c.788C>T | XP_016856817.1:p.Ala263Val | |
| XM_024447198.1:c.419C>T | XP_024302966.1:p.Ala140Val | |
| XR_002956640.1:n.1532C>T | ||
| NM_005957.5:c.665C>T MANE Select | NP_005948.3:p.Ala222Val | |
| NM_001330358.2:c.788C>T | NP_001317287.1:p.Ala263Val |