Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59843942C>T , CM000673.2:g.59843942C>T | GRCh38 |
| NC_000011.9:g.59611415C>T , CM000673.1:g.59611415C>T | GRCh37 |
| NC_000011.8:g.59367991C>T | NCBI36 |
| NG_008120.1:g.6560G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005142.3:c.193G>A MANE Select | NP_005133.2:p.Gly65Arg |
| ENST00000257248.3:c.193G>A MANE Select | ENSP00000257248.2:p.Gly65Arg |
| NM_005142.2:c.193G>A | NP_005133.2:p.Gly65Arg |
| ENST00000257248.2:c.193G>A | ENSP00000257248.2:p.Gly65Arg |
| ENST00000525058.5:c.*160G>A | ENSP00000433196.1:n.*160G>A |
| ENST00000532070.1:n.239G>A | |
| XM_011544939.1:c.193G>A | XP_011543241.1:p.Gly65Arg |
| XM_011544939.3:c.193G>A | XP_011543241.1:p.Gly65Arg |