Linked Data
dbSNP Id:
rs952406467
gnomAD v2:
8-18067651-C-T
gnomAD v3:
8-18210142-C-T
gnomAD v4:
8-18210142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18210142C>T , CM000670.2:g.18210142C>T | GRCh38 |
| NC_000008.10:g.18067651C>T , CM000670.1:g.18067651C>T | GRCh37 |
| NC_000008.9:g.18111931C>T | NCBI36 |
| NG_012245.2:g.44681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307719.9:c.-124C>T MANE Select | ENSP00000307218.4:n.-124C>T | |
| ENST00000307719.8:c.-124C>T | ENSP00000307218.4:n.-124C>T | |
| ENST00000517441.5:n.267+187C>T | ||
| ENST00000517574.5:n.9C>T | ||
| ENST00000518029.5:c.-508C>T | ENSP00000428270.1:n.-508C>T | |
| ENST00000541942.1:c.-274C>T | ENSP00000440900.1:n.-274C>T | |
| NM_000662.7:c.-124C>T | NP_000653.3:n.-124C>T | |
| NM_001160170.3:c.-658C>T | NP_001153642.1:n.-658C>T | |
| NM_001160171.3:c.-508C>T | NP_001153643.1:n.-508C>T | |
| NM_001160172.3:c.-429C>T | NP_001153644.1:n.-429C>T | |
| NM_001160173.3:c.-274C>T | NP_001153645.1:n.-274C>T | |
| NM_001160175.3:c.-206C>T | NP_001153647.1:n.-206C>T | |
| NM_001160176.3:c.-56C>T | NP_001153648.1:n.-56C>T | |
| NM_001160179.2:c.-86+187C>T | NP_001153651.1:n.-86+187C>T | |
| NM_001291962.1:c.-18+187C>T | NP_001278891.1:n.-18+187C>T | |
| XM_011544687.1:c.-590C>T | XP_011542989.1:n.-590C>T | |
| XM_011544688.1:c.-440C>T | XP_011542990.1:n.-440C>T | |
| XM_017013947.1:c.-552+187C>T | XP_016869436.1:n.-552+187C>T | |
| NM_000662.8:c.-124C>T MANE Select | NP_000653.3:n.-124C>T | |
| NM_001160170.4:c.-658C>T | NP_001153642.1:n.-658C>T | |
| NM_001160171.4:c.-508C>T | NP_001153643.1:n.-508C>T | |
| NM_001160172.4:c.-429C>T | NP_001153644.1:n.-429C>T | |
| NM_001160175.4:c.-206C>T | NP_001153647.1:n.-206C>T | |
| NM_001160176.4:c.-56C>T | NP_001153648.1:n.-56C>T | |
| NM_001160179.3:c.-86+187C>T | NP_001153651.1:n.-86+187C>T | |
| NM_001291962.2:c.-18+187C>T | NP_001278891.1:n.-18+187C>T | |
| NM_001160173.4:c.-274C>T | NP_001153645.1:n.-274C>T |