gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87192664A>T , CM000669.2:g.87192664A>T | GRCh38 |
| NC_000007.13:g.86821980A>T , CM000669.1:g.86821980A>T | GRCh37 |
| NC_000007.12:g.86659916A>T | NCBI36 |
| NG_029536.1:g.45304A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331242.12:c.1495-534A>T MANE Select | ENSP00000332171.7:n.1495-534A>T | |
| ENST00000331242.11:c.1495-534A>T | ENSP00000332171.7:n.1495-534A>T | |
| ENST00000394703.9:c.1495-534A>T | ENSP00000378193.5:n.1495-534A>T | |
| ENST00000412139.6:c.*848-534A>T | ENSP00000407941.2:n.*848-534A>T | |
| ENST00000413276.6:c.1285-534A>T | ENSP00000402627.2:n.1285-534A>T | |
| ENST00000425406.5:c.*901-534A>T | ENSP00000411908.1:n.*901-534A>T | |
| ENST00000432937.6:c.1231-534A>T | ENSP00000412532.2:n.1231-534A>T | |
| ENST00000447863.5:c.*848-534A>T | ENSP00000389774.1:n.*848-534A>T | |
| ENST00000480982.5:n.2390-534A>T | ||
| ENST00000488352.2:n.188A>T | ||
| ENST00000547146.6:c.*431-534A>T | ENSP00000448775.2:n.*431-534A>T | |
| ENST00000579677.5:c.*848-534A>T | ENSP00000464596.1:n.*848-534A>T | |
| ENST00000579850.5:c.*168-534A>T | ENSP00000463638.1:n.*168-534A>T | |
| ENST00000580803.1:n.293-534A>T | ||
| NM_001142326.1:c.1231-534A>T | NP_001135798.1:n.1231-534A>T | |
| NM_001142327.1:c.1495-534A>T | NP_001135799.1:n.1495-534A>T | |
| NM_021145.3:c.1495-534A>T | NP_066968.3:n.1495-534A>T | |
| NR_024549.1:n.2032-534A>T | ||
| NR_024550.1:n.1993-534A>T | ||
| XM_005250734.2:c.1495-534A>T | XP_005250791.1:n.1495-534A>T | |
| XM_006716202.1:c.1495-534A>T | XP_006716265.1:n.1495-534A>T | |
| XM_011516731.1:c.1495-534A>T | XP_011515033.1:n.1495-534A>T | |
| XM_011516732.1:c.1495-534A>T | XP_011515034.1:n.1495-534A>T | |
| XM_011516733.1:c.1495-534A>T | XP_011515035.1:n.1495-534A>T | |
| XM_011516734.1:c.1495-534A>T | XP_011515036.1:n.1495-534A>T | |
| XM_011516735.1:c.1495-534A>T | XP_011515037.1:n.1495-534A>T | |
| XM_011516736.1:c.1495-534A>T | XP_011515038.1:n.1495-534A>T | |
| XM_011516737.1:c.1495-534A>T | XP_011515039.1:n.1495-534A>T | |
| XM_011516738.1:c.1372-534A>T | XP_011515040.1:n.1372-534A>T | |
| XM_011516739.1:c.1372-534A>T | XP_011515041.1:n.1372-534A>T | |
| XM_011516740.1:c.1495-534A>T | XP_011515042.1:n.1495-534A>T | |
| XM_011516741.1:c.1318-534A>T | XP_011515043.1:n.1318-534A>T | |
| XM_011516735.3:c.1495-534A>T | XP_011515037.1:n.1495-534A>T | |
| XM_011516739.3:c.1372-534A>T | XP_011515041.1:n.1372-534A>T | |
| XM_017012865.2:c.1495-534A>T | XP_016868354.1:n.1495-534A>T | |
| XM_017012866.2:c.1372-534A>T | XP_016868355.1:n.1372-534A>T | |
| XM_017012867.1:c.1372-534A>T | XP_016868356.1:n.1372-534A>T | |
| XM_017012868.1:c.1495-534A>T | XP_016868357.1:n.1495-534A>T | |
| XM_017012869.1:c.1318-534A>T | XP_016868358.1:n.1318-534A>T | |
| XM_017012870.2:c.1372-534A>T | XP_016868359.1:n.1372-534A>T | |
| XM_017012871.1:c.697-534A>T | XP_016868360.1:n.697-534A>T | |
| XM_017012872.2:c.697-534A>T | XP_016868361.1:n.697-534A>T | |
| XM_017012873.1:c.697-534A>T | XP_016868362.1:n.697-534A>T | |
| XM_017012874.1:c.697-534A>T | XP_016868363.1:n.697-534A>T | |
| XM_017012875.1:c.697-534A>T | XP_016868364.1:n.697-534A>T | |
| XM_017012876.1:c.697-534A>T | XP_016868365.1:n.697-534A>T | |
| XM_017012877.1:c.697-534A>T | XP_016868366.1:n.697-534A>T | |
| XM_017012878.2:c.697-534A>T | XP_016868367.1:n.697-534A>T | |
| XM_024447011.1:c.1495-534A>T | XP_024302779.1:n.1495-534A>T | |
| XM_024447012.1:c.1495-534A>T | XP_024302780.1:n.1495-534A>T | |
| XM_024447013.1:c.1495-534A>T | XP_024302781.1:n.1495-534A>T | |
| XM_024447014.1:c.1495-534A>T | XP_024302782.1:n.1495-534A>T | |
| XM_024447015.1:c.1495-534A>T | XP_024302783.1:n.1495-534A>T | |
| XM_024447016.1:c.1495-534A>T | XP_024302784.1:n.1495-534A>T | |
| XM_024447017.1:c.1495-534A>T | XP_024302785.1:n.1495-534A>T | |
| XM_024447018.1:c.1495-534A>T | XP_024302786.1:n.1495-534A>T | |
| XM_024447019.1:c.1495-534A>T | XP_024302787.1:n.1495-534A>T | |
| XM_024447020.1:c.1495-534A>T | XP_024302788.1:n.1495-534A>T | |
| XM_024447021.1:c.1495-534A>T | XP_024302789.1:n.1495-534A>T | |
| XM_024447022.1:c.1495-534A>T | XP_024302790.1:n.1495-534A>T | |
| XM_024447023.1:c.1495-534A>T | XP_024302791.1:n.1495-534A>T | |
| XM_024447024.1:c.1318-534A>T | XP_024302792.1:n.1318-534A>T | |
| XM_024447025.1:c.1318-534A>T | XP_024302793.1:n.1318-534A>T | |
| XM_024447026.1:c.697-534A>T | XP_024302794.1:n.697-534A>T | |
| XR_001744895.1:n.1809-534A>T | ||
| XR_002956500.1:n.4288-534A>T | ||
| NM_001142326.2:c.1231-534A>T | NP_001135798.1:n.1231-534A>T | |
| NM_001142327.2:c.1495-534A>T MANE Select | NP_001135799.1:n.1495-534A>T | |
| NM_021145.4:c.1495-534A>T | NP_066968.3:n.1495-534A>T | |
| NR_024549.2:n.1940-534A>T | ||
| NR_024550.2:n.1901-534A>T |