Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233034762G>T , CM000664.2:g.233034762G>T | GRCh38 |
| NC_000002.11:g.233899472G>T , CM000664.1:g.233899472G>T | GRCh37 |
| NC_000002.10:g.233607716G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005383.2:c.848G>T MANE Select | NP_005374.2:p.Arg283Leu |
| ENST00000233840.3:c.848G>T MANE Select | ENSP00000233840.3:p.Arg283Leu |
| XM_011511241.1:c.848G>T | XP_011509543.1:p.Arg283Leu |