Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028794G= , CM000667.2:g.135028794G= | GRCh38 |
| NC_000005.9:g.134364484G= , CM000667.1:g.134364484G= | GRCh37 |
| NC_000005.8:g.134392383G= | NCBI36 |
| NG_012114.1:g.10481C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.930C= MANE Select | ENSP00000265340.6:p.Cys310= | |
| ENST00000265340.11:c.930C= | ENSP00000265340.6:p.Cys310= | |
| ENST00000506438.5:c.930C= | ENSP00000427542.1:p.Cys310= | |
| NM_002653.4:c.930C= | NP_002644.4:p.Cys310= | |
| NM_002653.5:c.930C= MANE Select | NP_002644.4:p.Cys310= |