Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999209G>A , CM000663.2:g.54999209G>A | GRCh38 |
| NC_000001.10:g.55464882G>A , CM000663.1:g.55464882G>A | GRCh37 |
| NC_000001.9:g.55237470G>A | NCBI36 |
| NG_008965.1:g.5266G>A | |
| NG_008965.2:g.5277G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_057176.3:c.23G>A MANE Select | NP_476517.1:p.Arg8Gln |
| ENST00000651561.1:c.23G>A MANE Select | ENSP00000498282.1:p.Arg8Gln |
| NM_057176.2:c.23G>A | NP_476517.1:p.Arg8Gln |
| ENST00000371265.4:c.23G>A | ENSP00000360312.4:p.Arg8Gln |