Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169520888A>G , CM000664.2:g.169520888A>G | GRCh38 |
| NC_000002.11:g.170377398A>G , CM000664.1:g.170377398A>G | GRCh37 |
| NC_000002.10:g.170085644A>G | NCBI36 |
| NG_042051.1:g.16187A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006063.3:c.1590A>G MANE Select | NP_006054.2:p.Gln530= |
| ENST00000284669.2:c.1590A>G MANE Select | ENSP00000284669.1:p.Gln530= |
| NM_006063.2:c.1590A>G | NP_006054.2:p.Gln530= |
| ENST00000284669.1:c.1590A>G | ENSP00000284669.1:p.Gln530= |
| ENST00000463400.1:n.594A>G | |
| ENST00000513963.1:c.1404A>G | ENSP00000424363.1:p.Gln468= |