Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20653774C>T , CM000663.2:g.20653774C>T | GRCh38 |
| NC_000001.10:g.20980267C>T , CM000663.1:g.20980267C>T | GRCh37 |
| NC_000001.9:g.20852854C>T | NCBI36 |
| NG_032064.1:g.12771G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005216.5:c.795G>A MANE Select | NP_005207.3:p.Arg265= |
| ENST00000602624.7:c.795G>A MANE Select | ENSP00000473655.2:p.Arg265= |
| NM_005216.4:c.846G>A | NP_005207.2:p.Arg282= |
| ENST00000375048.7:c.846G>A | ENSP00000364188.3:p.Arg282= |
| ENST00000415136.6:c.846G>A | ENSP00000399457.3:p.Arg282= |
| ENST00000602624.6:c.795G>A | ENSP00000473655.1:p.Arg265= |