gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000444 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
8.5e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40605601C>T , CM000681.2:g.40605601C>T | GRCh38 |
| NC_000019.9:g.41111507C>T , CM000681.1:g.41111507C>T | GRCh37 |
| NC_000019.8:g.45803347C>T | NCBI36 |
| NG_021201.1:g.17436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.639C>T MANE Select | ENSP00000380031.5:p.Tyr213= | |
| ENST00000204005.13:c.729C>T | ENSP00000204005.10:p.Tyr243= | |
| ENST00000308370.11:c.840C>T | ENSP00000311905.8:p.Tyr280= | |
| ENST00000396819.7:c.639C>T | ENSP00000380031.4:p.Tyr213= | |
| ENST00000598717.5:n.428+5498C>T | ||
| ENST00000599016.5:c.*575C>T | ENSP00000482179.1:n.*575C>T | |
| NM_001042544.1:c.840C>T | NP_001036009.1:p.Tyr280= | |
| NM_001042545.1:c.639C>T | NP_001036010.1:p.Tyr213= | |
| NM_003573.2:c.729C>T | NP_003564.2:p.Tyr243= | |
| XM_011527376.1:c.840C>T | XP_011525678.1:p.Tyr280= | |
| XM_011527377.1:c.873C>T | XP_011525679.1:p.Tyr291= | |
| XM_011527378.1:c.873C>T | XP_011525680.1:p.Tyr291= | |
| XM_011527379.1:c.639C>T | XP_011525681.1:p.Tyr213= | |
| XM_011527380.1:c.873C>T | XP_011525682.1:p.Tyr291= | |
| XM_011527381.1:c.873C>T | XP_011525683.1:p.Tyr291= | |
| XM_011527382.1:c.873C>T | XP_011525684.1:p.Tyr291= | |
| XM_011527383.1:c.873C>T | XP_011525685.1:p.Tyr291= | |
| XM_011527384.1:c.873C>T | XP_011525686.1:p.Tyr291= | |
| XM_011527385.1:c.873C>T | XP_011525687.1:p.Tyr291= | |
| XM_011527386.1:c.873C>T | XP_011525688.1:p.Tyr291= | |
| XM_011527387.1:c.231C>T | XP_011525689.1:p.Tyr77= | |
| XM_011527376.2:c.840C>T | XP_011525678.1:p.Tyr280= | |
| XM_011527377.2:c.873C>T | XP_011525679.1:p.Tyr291= | |
| XM_011527378.2:c.873C>T | XP_011525680.1:p.Tyr291= | |
| XM_011527380.2:c.873C>T | XP_011525682.1:p.Tyr291= | |
| XM_011527381.2:c.873C>T | XP_011525683.1:p.Tyr291= | |
| XM_011527382.2:c.873C>T | XP_011525684.1:p.Tyr291= | |
| XM_011527383.2:c.873C>T | XP_011525685.1:p.Tyr291= | |
| XM_011527384.2:c.873C>T | XP_011525686.1:p.Tyr291= | |
| XM_011527385.2:c.873C>T | XP_011525687.1:p.Tyr291= | |
| XM_011527386.2:c.873C>T | XP_011525688.1:p.Tyr291= | |
| XM_017027352.1:c.873C>T | XP_016882841.1:p.Tyr291= | |
| XM_017027353.1:c.873C>T | XP_016882842.1:p.Tyr291= | |
| XM_017027354.1:c.873C>T | XP_016882843.1:p.Tyr291= | |
| NM_001042545.2:c.639C>T MANE Select | NP_001036010.1:p.Tyr213= |