gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26672468 (SAS)
Genomes Max Group AF
0.28158203 (SAS)
Exomes Max Group AF
0.25989952 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31353908A>C , CM000668.2:g.31353908A>C | GRCh38 |
| NC_000006.11:g.31321685A>C , CM000668.1:g.31321685A>C | GRCh37 |
| NC_000006.10:g.31429664A>C | NCBI36 |
| NG_023187.1:g.8305T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3529T>G | ||
| ENST00000481849.6:n.3489T>G | ||
| ENST00000497377.6:n.3396T>G | ||
| ENST00000696558.1:c.1551T>G | ENSP00000512716.1:n.1551T>G | |
| ENST00000696559.1:c.*393T>G | ENSP00000512717.1:n.*393T>G | |
| ENST00000696560.1:c.*393T>G | ENSP00000512718.1:n.*393T>G | |
| ENST00000696561.1:c.*393T>G | ENSP00000512719.1:n.*393T>G | |
| ENST00000696562.1:c.*393T>G | ENSP00000512720.1:n.*393T>G | |
| ENST00000412585.7:c.*393T>G MANE Select | ENSP00000399168.2:n.*393T>G | |
| ENST00000412585.6:c.*393T>G | ENSP00000399168.2:n.*393T>G | |
| ENST00000481849.5:n.717T>G | ||
| ENST00000497377.5:n.881T>G | ||
| NM_005514.6:c.*393T>G | NP_005505.2:n.*393T>G | |
| XM_011514556.1:c.*393T>G | XP_011512858.1:n.*393T>G | |
| XM_011514557.1:c.*393T>G | XP_011512859.1:n.*393T>G | |
| XR_926175.1:n.1921T>G | ||
| NM_005514.7:c.*393T>G | NP_005505.2:n.*393T>G | |
| NM_005514.8:c.*393T>G MANE Select | NP_005505.2:n.*393T>G |