Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517750A>C , CM000674.2:g.52517750A>C | GRCh38 |
| NC_000012.11:g.52911534A>C , CM000674.1:g.52911534A>C | GRCh37 |
| NC_000012.10:g.51197801A>C | NCBI36 |
| NG_008297.1:g.7710T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.932T>G MANE Select | NP_000415.2:p.Leu311Arg |
| ENST00000252242.9:c.932T>G MANE Select | ENSP00000252242.4:p.Leu311Arg |
| NM_000424.3:c.932T>G | NP_000415.2:p.Leu311Arg |
| ENST00000252242.8:c.932T>G | ENSP00000252242.4:p.Leu311Arg |
| ENST00000547890.5:n.61T>G | |
| ENST00000548409.5:c.54T>G | |
| ENST00000549511.5:n.139T>G | |
| ENST00000551013.1:n.570T>G | |
| ENST00000551188.5:c.375T>G | |
| ENST00000552629.5:n.1030T>G |