Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55008435A>G , CM000663.2:g.55008435A>G | GRCh38 |
| NC_000001.10:g.55474108A>G , CM000663.1:g.55474108A>G | GRCh37 |
| NC_000001.9:g.55246696A>G | NCBI36 |
| NG_008965.1:g.14492A>G | |
| NG_008965.2:g.14503A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_057176.3:c.770A>G MANE Select | NP_476517.1:p.Gln257Arg |
| ENST00000651561.1:c.770A>G MANE Select | ENSP00000498282.1:p.Gln257Arg |
| NM_057176.2:c.770A>G | NP_476517.1:p.Gln257Arg |
| ENST00000371265.4:c.770A>G | ENSP00000360312.4:p.Gln257Arg |
| XM_006710883.2:c.539A>G | XP_006710946.1:p.Gln180Arg |