gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Exomes Max Group AF
0.00002375 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42965347G>A , CM000668.2:g.42965347G>A | GRCh38 |
| NC_000006.11:g.42933085G>A , CM000668.1:g.42933085G>A | GRCh37 |
| NC_000006.10:g.43041063G>A | NCBI36 |
| NG_008370.1:g.18897C>T | |
| NG_008396.1:g.9586G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2493C>T MANE Select | ENSP00000303511.8:p.Ala831= | |
| ENST00000244546.4:c.2246C>T | ENSP00000244546.4:n.2246C>T | |
| ENST00000304611.12:c.2493C>T | ENSP00000303511.8:p.Ala831= | |
| NM_000287.3:c.2493C>T | NP_000278.3:p.Ala831= | |
| NM_001316313.1:c.2229C>T | NP_001303242.1:p.Ala743= | |
| NR_133009.1:n.2339C>T | ||
| XM_011514661.1:c.2409C>T | XP_011512963.1:p.Ala803= | |
| XM_011514661.2:c.2409C>T | XP_011512963.1:p.Ala803= | |
| XR_001743466.2:n.3455C>T | ||
| NM_000287.4:c.2493C>T MANE Select | NP_000278.3:p.Ala831= | |
| NM_001316313.2:c.2229C>T | NP_001303242.1:p.Ala743= | |
| NR_133009.2:n.2277C>T |