Linked Data
ClinVar Variation Id:
349991
ClinVar RCV Id:
RCV000292849
dbSNP Id:
rs865870083
gnomAD v2:
4-88584631-T-A
gnomAD v3:
4-87663479-T-A
gnomAD v4:
4-87663479-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87663479T>A , CM000666.2:g.87663479T>A | GRCh38 |
| NC_000004.11:g.88584631T>A , CM000666.1:g.88584631T>A | GRCh37 |
| NC_000004.10:g.88803655T>A | NCBI36 |
| NG_008988.1:g.18178T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282479.8:c.*159T>A | ENSP00000282479.6:n.*159T>A | |
| ENST00000682752.1:c.*1612T>A | ENSP00000507436.1:n.*1612T>A | |
| ENST00000682781.1:n.1778T>A | ||
| ENST00000683764.1:n.1973T>A | ||
| ENST00000684240.1:n.1864T>A | ||
| ENST00000684389.1:n.1825T>A | ||
| ENST00000339673.11:c.*159T>A MANE Select | ENSP00000340935.6:n.*159T>A | |
| ENST00000282479.7:c.*159T>A | ENSP00000282479.6:n.*159T>A | |
| ENST00000339673.10:c.*159T>A | ENSP00000340935.6:n.*159T>A | |
| NM_001079911.2:c.*159T>A | NP_001073380.1:n.*159T>A | |
| NM_004407.3:c.*159T>A | NP_004398.1:n.*159T>A | |
| XM_011531705.1:c.*159T>A | XP_011530007.1:n.*159T>A | |
| XM_011531706.1:c.*159T>A | XP_011530008.1:n.*159T>A | |
| XR_938960.1:n.115-6070A>T | ||
| XM_011531705.2:c.*159T>A | XP_011530007.1:n.*159T>A | |
| XM_011531706.2:c.*159T>A | XP_011530008.1:n.*159T>A | |
| XR_938960.2:n.115-6070A>T | ||
| NM_001079911.3:c.*159T>A | NP_001073380.1:n.*159T>A | |
| NM_004407.4:c.*159T>A MANE Select | NP_004398.1:n.*159T>A |