Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114323246G>A , CM000671.2:g.114323246G>A | GRCh38 |
| NC_000009.11:g.117085526G>A , CM000671.1:g.117085526G>A | GRCh37 |
| NC_000009.10:g.116125347G>A | NCBI36 |
| NG_012108.1:g.5224G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000607.4:c.113G>A MANE Select | NP_000598.2:p.Arg38Gln |
| ENST00000259396.9:c.113G>A MANE Select | ENSP00000259396.8:p.Arg38Gln |
| NM_000607.2:c.113G>A | NP_000598.2:p.Arg38Gln |
| NM_000607.3:c.113G>A | NP_000598.2:p.Arg38Gln |
| ENST00000259396.8:c.113G>A | ENSP00000259396.8:p.Arg38Gln |