Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154477762C>A , CM000667.2:g.154477762C>A | GRCh38 |
| NC_000005.9:g.153857322C>A , CM000667.1:g.153857322C>A | GRCh37 |
| NC_000005.8:g.153837515C>A | NCBI36 |
| NG_052889.1:g.5503G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004821.3:c.247G>T MANE Select | NP_004812.1:p.Gly83Trp |
| ENST00000231121.3:c.247G>T MANE Select | ENSP00000231121.2:p.Gly83Trp |
| NM_004821.2:c.247G>T | NP_004812.1:p.Gly83Trp |
| ENST00000231121.2:c.247G>T | ENSP00000231121.2:p.Gly83Trp |
| XM_005268531.1:c.247G>T | XP_005268588.1:p.Gly83Trp |