Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535233G>T , CM000665.2:g.81535233G>T | GRCh38 |
| NC_000003.11:g.81584384G>T , CM000665.1:g.81584384G>T | GRCh37 |
| NC_000003.10:g.81667074G>T | NCBI36 |
| NG_011810.1:g.231568C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1896C>A MANE Select | ENSP00000410833.2:p.Ser632Arg | |
| ENST00000429644.6:c.1896C>A | ENSP00000410833.2:p.Ser632Arg | |
| ENST00000484687.1:n.297C>A | ||
| ENST00000489715.1:c.1773C>A | ENSP00000419638.1:p.Ser591Arg | |
| NM_000158.3:c.1896C>A | NP_000149.3:p.Ser632Arg | |
| NM_000158.4:c.1896C>A MANE Select | NP_000149.4:p.Ser632Arg |