gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00258117 (AFR)
Genomes Max Group AF
0.00258117 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53246063G>A , CM000663.2:g.53246063G>A | GRCh38 |
| NC_000001.10:g.53711735G>A , CM000663.1:g.53711735G>A | GRCh37 |
| NC_000001.9:g.53484323G>A | NCBI36 |
| NG_011517.2:g.87087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306052.12:c.*955C>T MANE Select | ENSP00000303634.6:n.*955C>T | |
| ENST00000480045.6:c.*2012C>T | ENSP00000433554.2:n.*2012C>T | |
| ENST00000529670.6:c.525-82C>T | ||
| ENST00000653217.1:c.3382C>T | ENSP00000499777.1:n.3382C>T | |
| ENST00000653810.1:c.1676-82C>T | ||
| ENST00000654834.1:n.3307C>T | ||
| ENST00000657047.1:c.837-82C>T | ||
| ENST00000657895.1:c.*955C>T | ENSP00000499764.1:n.*955C>T | |
| ENST00000658277.1:c.*955C>T | ENSP00000499550.1:n.*955C>T | |
| ENST00000661457.1:c.*3066C>T | ENSP00000499547.1:n.*3066C>T | |
| ENST00000662198.1:c.*955C>T | ENSP00000499355.1:n.*955C>T | |
| ENST00000667377.1:c.2677-82C>T | ENSP00000499405.1:n.2677-82C>T | |
| ENST00000668071.1:c.3254C>T | ||
| ENST00000668448.1:c.*955C>T | ENSP00000499273.1:n.*955C>T | |
| ENST00000669432.1:n.10311C>T | ||
| ENST00000306052.10:c.*955C>T | ENSP00000303634.6:n.*955C>T | |
| ENST00000529670.5:c.428-82C>T | ||
| NM_001018054.2:c.*955C>T | NP_001018064.1:n.*955C>T | |
| NM_004631.4:c.*955C>T | NP_004622.2:n.*955C>T | |
| NM_017522.4:c.*955C>T | NP_059992.3:n.*955C>T | |
| NM_033300.3:c.*955C>T | NP_150643.2:n.*955C>T | |
| XM_005271173.2:c.*955C>T | XP_005271230.1:n.*955C>T | |
| XM_005271174.2:c.*955C>T | XP_005271231.1:n.*955C>T | |
| XM_005271175.2:c.*955C>T | XP_005271232.1:n.*955C>T | |
| XM_006710881.2:c.*955C>T | XP_006710944.1:n.*955C>T | |
| XM_006710882.2:c.*955C>T | XP_006710945.1:n.*955C>T | |
| XM_011542094.1:c.*955C>T | XP_011540396.1:n.*955C>T | |
| XM_011542095.1:c.*955C>T | XP_011540397.1:n.*955C>T | |
| XM_011542097.1:c.*955C>T | XP_011540399.1:n.*955C>T | |
| XM_005271173.4:c.*955C>T | XP_005271230.1:n.*955C>T | |
| XM_005271174.3:c.*955C>T | XP_005271231.1:n.*955C>T | |
| XM_005271175.3:c.*955C>T | XP_005271232.1:n.*955C>T | |
| XM_006710881.4:c.*955C>T | XP_006710944.1:n.*955C>T | |
| XM_006710882.4:c.*955C>T | XP_006710945.1:n.*955C>T | |
| XM_011542094.2:c.*955C>T | XP_011540396.1:n.*955C>T | |
| XM_011542095.2:c.*955C>T | XP_011540397.1:n.*955C>T | |
| XM_017002265.1:c.*955C>T | XP_016857754.1:n.*955C>T | |
| XM_017002266.2:c.*955C>T | XP_016857755.1:n.*955C>T | |
| XM_017002267.1:c.*955C>T | XP_016857756.1:n.*955C>T | |
| XM_017002268.1:c.*955C>T | XP_016857757.1:n.*955C>T | |
| NM_001018054.3:c.*955C>T | NP_001018064.1:n.*955C>T | |
| NM_004631.5:c.*955C>T MANE Select | NP_004622.2:n.*955C>T | |
| NM_017522.5:c.*955C>T | NP_059992.3:n.*955C>T | |
| NM_033300.4:c.*955C>T | NP_150643.2:n.*955C>T |