Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80875789A>G , CM000667.2:g.80875789A>G | GRCh38 |
| NC_000005.9:g.80171608A>G , CM000667.1:g.80171608A>G | GRCh37 |
| NC_000005.8:g.80207364A>G | NCBI36 |
| NG_016607.1:g.226315A>G | |
| NG_016607.2:g.226315A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3341A>G MANE Select | NP_002430.3:p.His1114Arg |
| ENST00000265081.7:c.3341A>G MANE Select | ENSP00000265081.6:p.His1114Arg |
| NM_002439.4:c.3341A>G | NP_002430.3:p.His1114Arg |
| ENST00000265081.6:c.3341A>G | ENSP00000265081.6:p.His1114Arg |
| ENST00000658259.1:c.3173A>G | ENSP00000499617.1:p.His1058Arg |
| ENST00000659302.1:c.749A>G | |
| ENST00000667069.1:c.3146A>G | ENSP00000499502.1:p.His1049Arg |
| ENST00000670357.1:c.*665A>G | ENSP00000499791.1:n.*665A>G |