gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005287 (AFR)
Exomes Max Group AF
0.0000975 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.53229597T>G , CM000670.2:g.53229597T>G | GRCh38 |
| NC_000008.10:g.54142157T>G , CM000670.1:g.54142157T>G | GRCh37 |
| NC_000008.9:g.54304710T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265572.8:c.843A>C MANE Select | ENSP00000265572.3:p.Ala281= | |
| ENST00000673285.2:c.843A>C | ENSP00000500765.2:p.Ala281= | |
| ENST00000265572.7:c.843A>C | ENSP00000265572.3:p.Ala281= | |
| ENST00000520287.5:c.843A>C | ENSP00000429706.1:p.Ala281= | |
| ENST00000522508.1:c.*666A>C | ENSP00000428231.1:n.*666A>C | |
| ENST00000524278.5:c.576A>C | ENSP00000430923.1:p.Ala192= | |
| ENST00000612786.4:c.576A>C | ENSP00000483000.1:p.Ala192= | |
| ENST00000613482.1:c.801A>C | ENSP00000478453.1:p.Ala267= | |
| NM_000912.3:c.843A>C | NP_000903.2:p.Ala281= | |
| NM_001282904.1:c.576A>C | NP_001269833.1:p.Ala192= | |
| NM_000912.4:c.843A>C | NP_000903.2:p.Ala281= | |
| NM_001318497.1:c.843A>C | NP_001305426.1:p.Ala281= | |
| NM_000912.5:c.843A>C MANE Select | NP_000903.2:p.Ala281= | |
| NM_001318497.2:c.843A>C | NP_001305426.1:p.Ala281= | |
| NM_001282904.2:c.576A>C | NP_001269833.1:p.Ala192= |