Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145313G= , CM000670.2:g.38145313G= | GRCh38 |
| NC_000008.10:g.38002831G= , CM000670.1:g.38002831G= | GRCh37 |
| NC_000008.9:g.38121988G= | NCBI36 |
| NG_011827.1:g.10770C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.653C= MANE Select | NP_000340.2:p.Ala218= |
| ENST00000276449.9:c.653C= MANE Select | ENSP00000276449.3:p.Ala218= |
| NM_000349.2:c.653C= | NP_000340.2:p.Ala218= |
| ENST00000276449.8:c.653C= | ENSP00000276449.3:p.Ala218= |
| ENST00000520114.1:n.1787C= | |
| ENST00000522050.1:c.586+650C= | |
| XM_006716392.1:c.650+650C= | XP_006716455.1:n.650+650C= |