Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.93585340G= , CM000667.2:g.93585340G= | GRCh38 |
| NC_000005.9:g.92921046G= , CM000667.1:g.92921046G= | GRCh37 |
| NC_000005.8:g.92946802G= | NCBI36 |
| NG_034119.1:g.7004G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615873.2:c.242G= | ENSP00000481517.1:p.Cys81= | |
| ENST00000327111.8:c.317G= MANE Select | ENSP00000325819.3:p.Cys106= | |
| ENST00000647447.1:c.164G= | ENSP00000495740.1:p.Cys55= | |
| ENST00000327111.7:c.317G= | ENSP00000325819.3:p.Cys106= | |
| ENST00000615873.1:c.242G= | ENSP00000481517.1:p.Cys81= | |
| NM_005654.5:c.317G= | NP_005645.1:p.Cys106= | |
| NM_005654.6:c.317G= MANE Select | NP_005645.1:p.Cys106= |