Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535323G= , CM000665.2:g.81535323G= | GRCh38 |
| NC_000003.11:g.81584474G= , CM000665.1:g.81584474G= | GRCh37 |
| NC_000003.10:g.81667164G= | NCBI36 |
| NG_011810.1:g.231478C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1806C= MANE Select | ENSP00000410833.2:p.Ala602= | |
| ENST00000429644.6:c.1806C= | ENSP00000410833.2:p.Ala602= | |
| ENST00000484687.1:n.207C= | ||
| ENST00000489715.1:c.1683C= | ENSP00000419638.1:p.Ala561= | |
| NM_000158.3:c.1806C= | NP_000149.3:p.Ala602= | |
| NM_000158.4:c.1806C= MANE Select | NP_000149.4:p.Ala602= |