Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148896589T>G , CM000665.2:g.148896589T>G | GRCh38 |
| NC_000003.11:g.148614376T>G , CM000665.1:g.148614376T>G | GRCh37 |
| NC_000003.10:g.150097066T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296046.4:c.1136T>G MANE Select | ENSP00000296046.3:p.Leu379Arg | |
| ENST00000296046.3:c.1136T>G | ENSP00000296046.3:p.Leu379Arg | |
| NM_001870.2:c.1136T>G | NP_001861.2:p.Leu379Arg | |
| NM_001870.3:c.1136T>G | NP_001861.2:p.Leu379Arg | |
| NM_001870.4:c.1136T>G MANE Select | NP_001861.2:p.Leu379Arg |