Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535286C>G , CM000665.2:g.81535286C>G | GRCh38 |
| NC_000003.11:g.81584437C>G , CM000665.1:g.81584437C>G | GRCh37 |
| NC_000003.10:g.81667127C>G | NCBI36 |
| NG_011810.1:g.231515G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1843G>C MANE Select | NP_000149.4:p.Ala615Pro |
| ENST00000429644.7:c.1843G>C MANE Select | ENSP00000410833.2:p.Ala615Pro |
| NM_000158.3:c.1843G>C | NP_000149.3:p.Ala615Pro |
| ENST00000429644.6:c.1843G>C | ENSP00000410833.2:p.Ala615Pro |
| ENST00000484687.1:n.244G>C | |
| ENST00000489715.1:c.1720G>C | ENSP00000419638.1:p.Ala574Pro |