Linked Data
ClinVar Variation Id:
332000
ClinVar RCV Id:
RCV000281460
RCV000312180
RCV000337865
RCV000400747
RCV000535545
RCV001577710
RCV002429295
dbSNP Id:
rs200240989
ExAC:
2:167168054 C / T
gnomAD v2:
2-167168054-C-T
gnomAD v3:
2-166311544-C-T
gnomAD v4:
2-166311544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166311544C>T , CM000664.2:g.166311544C>T | GRCh38 |
| NC_000002.11:g.167168054C>T , CM000664.1:g.167168054C>T | GRCh37 |
| NC_000002.10:g.166876300C>T | NCBI36 |
| NG_012798.1:g.69444G>A , LRG_369:g.69444G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.213G>A | ENSP00000304748.7:p.Val71= | |
| ENST00000409435.6:c.213G>A | ENSP00000386330.2:p.Val71= | |
| ENST00000452182.2:c.213G>A | ENSP00000393141.2:p.Val71= | |
| ENST00000454569.6:c.213G>A | ENSP00000413212.2:p.Val71= | |
| ENST00000472119.2:n.568G>A | ||
| ENST00000642356.2:c.213G>A MANE Select | ENSP00000495601.1:p.Val71= | |
| ENST00000644316.1:c.213G>A | ENSP00000493939.1:p.Val71= | |
| ENST00000645907.1:c.213G>A | ENSP00000495983.1:p.Val71= | |
| ENST00000667991.1:c.213G>A | ENSP00000499663.1:p.Val71= | |
| ENST00000303354.10:c.213G>A | ENSP00000304748.7:p.Val71= | |
| ENST00000409435.5:c.213G>A | ENSP00000386330.1:p.Val71= | |
| ENST00000409672.5:c.213G>A | ENSP00000386306.1:p.Val71= | |
| NM_002977.3:c.213G>A , LRG_369t1:c.213G>A | NP_002968.1:p.Val71= | |
| XM_005246757.1:c.213G>A | XP_005246814.1:p.Val71= | |
| XM_011511616.1:c.213G>A | XP_011509918.1:p.Val71= | |
| XM_011511617.1:c.213G>A | XP_011509919.1:p.Val71= | |
| XM_011511618.1:c.213G>A | XP_011509920.1:p.Val71= | |
| XM_011511619.1:c.213G>A | XP_011509921.1:p.Val71= | |
| NM_001365536.1:c.213G>A MANE Select | NP_001352465.1:p.Val71= | |
| XM_011511616.3:c.213G>A | XP_011509918.1:p.Val71= | |
| XM_011511617.2:c.213G>A | XP_011509919.1:p.Val71= | |
| XM_011511618.2:c.213G>A | XP_011509920.1:p.Val71= | |
| XM_011511619.2:c.213G>A | XP_011509921.1:p.Val71= | |
| XM_017004668.1:c.-189G>A | XP_016860157.1:n.-189G>A | |
| XR_001738886.1:n.527G>A |