Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218164274C>T , CM000664.2:g.218164274C>T | GRCh38 |
| NC_000002.11:g.219028997C>T , CM000664.1:g.219028997C>T | GRCh37 |
| NC_000002.10:g.218737242C>T | NCBI36 |
| NG_011814.1:g.7720G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000634.3:c.938G>A MANE Select | NP_000625.1:p.Arg313His |
| ENST00000295683.3:c.938G>A MANE Select | ENSP00000295683.2:p.Arg313His |
| NM_000634.2:c.938G>A | NP_000625.1:p.Arg313His |
| ENST00000295683.2:c.938G>A | ENSP00000295683.2:p.Arg313His |