Linked Data
dbSNP Id:
rs780117938
ExAC:
4:88584458 C / T
gnomAD v2:
4-88584458-C-T
gnomAD v4:
4-87663306-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87663306C>T , CM000666.2:g.87663306C>T | GRCh38 |
| NC_000004.11:g.88584458C>T , CM000666.1:g.88584458C>T | GRCh37 |
| NC_000004.10:g.88803482C>T | NCBI36 |
| NG_008988.1:g.18005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282479.8:c.1480C>T | ENSP00000282479.6:p.Gln494Ter | |
| ENST00000682752.1:c.*1439C>T | ENSP00000507436.1:n.*1439C>T | |
| ENST00000682781.1:n.1605C>T | ||
| ENST00000683764.1:n.1800C>T | ||
| ENST00000684240.1:n.1691C>T | ||
| ENST00000684389.1:n.1652C>T | ||
| ENST00000339673.11:c.1528C>T MANE Select | ENSP00000340935.6:p.Gln510Ter | |
| ENST00000282479.7:c.1480C>T | ENSP00000282479.6:p.Gln494Ter | |
| ENST00000339673.10:c.1528C>T | ENSP00000340935.6:p.Gln510Ter | |
| NM_001079911.2:c.1480C>T | NP_001073380.1:p.Gln494Ter | |
| NM_004407.3:c.1528C>T | NP_004398.1:p.Gln510Ter | |
| XM_011531705.1:c.1615C>T | XP_011530007.1:p.Gln539Ter | |
| XM_011531706.1:c.1567C>T | XP_011530008.1:p.Gln523Ter | |
| XR_938960.1:n.115-5897G>A | ||
| XM_011531705.2:c.1615C>T | XP_011530007.1:p.Gln539Ter | |
| XM_011531706.2:c.1567C>T | XP_011530008.1:p.Gln523Ter | |
| XR_938960.2:n.115-5897G>A | ||
| NM_001079911.3:c.1480C>T | NP_001073380.1:p.Gln494Ter | |
| NM_004407.4:c.1528C>T MANE Select | NP_004398.1:p.Gln510Ter |