Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31829810C= , CM000668.2:g.31829810C= | GRCh38 |
| NC_000006.11:g.31797587C= , CM000668.1:g.31797587C= | GRCh37 |
| NC_000006.10:g.31905566C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005346.6:c.1860C= MANE Select | NP_005337.2:p.Gly620= |
| ENST00000375650.5:c.1860C= MANE Select | ENSP00000364801.3:p.Gly620= |
| NM_005346.4:c.1860C= | NP_005337.2:p.Gly620= |
| NM_005346.5:c.1860C= | NP_005337.2:p.Gly620= |
| ENST00000375650.4:c.1860C= | ENSP00000364801.3:p.Gly620= |