gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160437156G>C , CM000668.2:g.160437156G>C | GRCh38 |
| NC_000006.11:g.160858188G>C , CM000668.1:g.160858188G>C | GRCh37 |
| NC_000006.10:g.160778178G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275300.3:c.1233G>C MANE Select | ENSP00000275300.2:p.Ala411= | |
| ENST00000275300.2:c.1233G>C | ENSP00000275300.2:p.Ala411= | |
| NM_021977.3:c.1233G>C | NP_068812.1:p.Ala411= | |
| XM_005267106.3:c.840G>C | XP_005267163.1:p.Ala280= | |
| XM_011536075.1:c.777G>C | XP_011534377.1:p.Ala259= | |
| XM_011536076.1:c.777G>C | XP_011534378.1:p.Ala259= | |
| XM_011536077.1:c.777G>C | XP_011534379.1:p.Ala259= | |
| XR_245546.1:n.1018-5605G>C | ||
| XM_005267106.5:c.840G>C | XP_005267163.1:p.Ala280= | |
| XM_011536075.2:c.777G>C | XP_011534377.1:p.Ala259= | |
| XM_011536076.3:c.777G>C | XP_011534378.1:p.Ala259= | |
| XM_017011203.2:c.777G>C | XP_016866692.1:p.Ala259= | |
| XR_001743588.1:n.1177G>C | ||
| XR_001743589.1:n.1018-5605G>C | ||
| NM_021977.4:c.1233G>C MANE Select | NP_068812.1:p.Ala411= |