Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13819384C>T , CM000665.2:g.13819384C>T | GRCh38 |
| NC_000003.11:g.13860881C>T , CM000665.1:g.13860881C>T | GRCh37 |
| NC_000003.10:g.13835882C>T | NCBI36 |
| NG_008088.1:g.65738G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004625.4:c.610G>A MANE Select | NP_004616.2:p.Gly204Ser |
| ENST00000285018.5:c.610G>A MANE Select | ENSP00000285018.4:p.Gly204Ser |
| NM_004625.3:c.610G>A | NP_004616.2:p.Gly204Ser |
| ENST00000285018.4:c.610G>A | ENSP00000285018.4:p.Gly204Ser |
| XM_011534090.1:c.409G>A | XP_011532392.1:p.Gly137Ser |
| XM_011534091.1:c.409G>A | XP_011532393.1:p.Gly137Ser |
| XM_011534091.2:c.409G>A | XP_011532393.1:p.Gly137Ser |