gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254617G>T , CM000679.2:g.44254617G>T | GRCh38 |
| NC_000017.10:g.42331985G>T , CM000679.1:g.42331985G>T | GRCh37 |
| NC_000017.9:g.39687511G>T | NCBI36 |
| NG_007498.1:g.18518C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1936C>A MANE Select | ENSP00000262418.6:p.Arg646= | |
| ENST00000262418.10:c.1936C>A | ENSP00000262418.6:p.Arg646= | |
| ENST00000399246.3:c.838C>A | ENSP00000382190.3:p.Arg280= | |
| NM_000342.3:c.1936C>A | NP_000333.1:p.Arg646= | |
| XM_005257593.3:c.1741C>A | XP_005257650.1:p.Arg581= | |
| XM_011525129.1:c.1846C>A | XP_011523431.1:p.Arg616= | |
| XM_011525130.1:c.1936C>A | XP_011523432.1:p.Arg646= | |
| XM_011525131.1:c.1936C>A | XP_011523433.1:p.Arg646= | |
| XM_005257593.5:c.1741C>A | XP_005257650.1:p.Arg581= | |
| XM_011525129.2:c.1846C>A | XP_011523431.1:p.Arg616= | |
| NM_000342.4:c.1936C>A MANE Select | NP_000333.1:p.Arg646= |