Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26490207C>T , CM000666.2:g.26490207C>T | GRCh38 |
| NC_000004.11:g.26491829C>T , CM000666.1:g.26491829C>T | GRCh37 |
| NC_000004.10:g.26100927C>T | NCBI36 |
| NG_012053.1:g.5214G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000730.3:c.61G>A MANE Select | NP_000721.1:p.Gly21Arg |
| ENST00000295589.4:c.61G>A MANE Select | ENSP00000295589.3:p.Gly21Arg |
| NM_000730.2:c.61G>A | NP_000721.1:p.Gly21Arg |
| ENST00000295589.3:c.61G>A | ENSP00000295589.3:p.Gly21Arg |