Linked Data
ClinVar Variation Id:
332001
ClinVar RCV Id:
RCV000295951
RCV000374375
RCV000349888
RCV000388140
RCV001699462
RCV002379219
RCV004544609
RCV000546843
dbSNP Id:
rs200826539
ExAC:
2:167168138 A / G
gnomAD v2:
2-167168138-A-G
gnomAD v3:
2-166311628-A-G
gnomAD v4:
2-166311628-A-G
PubMed:
PMID:28263302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166311628A>G , CM000664.2:g.166311628A>G | GRCh38 |
| NC_000002.11:g.167168138A>G , CM000664.1:g.167168138A>G | GRCh37 |
| NC_000002.10:g.166876384A>G | NCBI36 |
| NG_012798.1:g.69360T>C , LRG_369:g.69360T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.129T>C | ENSP00000304748.7:p.Asp43= | |
| ENST00000409435.6:c.129T>C | ENSP00000386330.2:p.Asp43= | |
| ENST00000452182.2:c.129T>C | ENSP00000393141.2:p.Asp43= | |
| ENST00000454569.6:c.129T>C | ENSP00000413212.2:p.Asp43= | |
| ENST00000472119.2:n.484T>C | ||
| ENST00000642356.2:c.129T>C MANE Select | ENSP00000495601.1:p.Asp43= | |
| ENST00000644316.1:c.129T>C | ENSP00000493939.1:p.Asp43= | |
| ENST00000645907.1:c.129T>C | ENSP00000495983.1:p.Asp43= | |
| ENST00000667991.1:c.129T>C | ENSP00000499663.1:p.Asp43= | |
| ENST00000303354.10:c.129T>C | ENSP00000304748.7:p.Asp43= | |
| ENST00000409435.5:c.129T>C | ENSP00000386330.1:p.Asp43= | |
| ENST00000409672.5:c.129T>C | ENSP00000386306.1:p.Asp43= | |
| NM_002977.3:c.129T>C , LRG_369t1:c.129T>C | NP_002968.1:p.Asp43= | |
| XM_005246757.1:c.129T>C | XP_005246814.1:p.Asp43= | |
| XM_011511616.1:c.129T>C | XP_011509918.1:p.Asp43= | |
| XM_011511617.1:c.129T>C | XP_011509919.1:p.Asp43= | |
| XM_011511618.1:c.129T>C | XP_011509920.1:p.Asp43= | |
| XM_011511619.1:c.129T>C | XP_011509921.1:p.Asp43= | |
| NM_001365536.1:c.129T>C MANE Select | NP_001352465.1:p.Asp43= | |
| XM_011511616.3:c.129T>C | XP_011509918.1:p.Asp43= | |
| XM_011511617.2:c.129T>C | XP_011509919.1:p.Asp43= | |
| XM_011511618.2:c.129T>C | XP_011509920.1:p.Asp43= | |
| XM_011511619.2:c.129T>C | XP_011509921.1:p.Asp43= | |
| XR_001738886.1:n.443T>C |