Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45150230G>A , CM000679.2:g.45150230G>A | GRCh38 |
| NC_000017.10:g.43227597G>A , CM000679.1:g.43227597G>A | GRCh37 |
| NC_000017.9:g.40583380G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332499.4:c.1040G>A MANE Select | ENSP00000328773.3:p.Arg347Gln | |
| ENST00000332499.3:c.1040G>A | ENSP00000328773.2:p.Arg347Gln | |
| NM_006460.2:c.1040G>A | NP_006451.1:p.Arg347Gln | |
| NM_006460.3:c.1040G>A MANE Select | NP_006451.1:p.Arg347Gln |