Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84443318T>C , CM000664.2:g.84443318T>C | GRCh38 |
| NC_000002.11:g.84670442T>C , CM000664.1:g.84670442T>C | GRCh37 |
| NC_000002.10:g.84523953T>C | NCBI36 |
| NG_016755.1:g.21145A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.284A>G MANE Select | NP_003840.2:p.His95Arg |
| ENST00000393868.7:c.284A>G MANE Select | ENSP00000377446.2:p.His95Arg |
| NM_003849.3:c.284A>G | NP_003840.2:p.His95Arg |
| ENST00000393868.6:c.284A>G | ENSP00000377446.2:p.His95Arg |
| ENST00000430989.1:n.261A>G | |
| ENST00000442240.5:c.295A>G | |
| ENST00000483605.5:n.363A>G | |
| ENST00000491642.5:n.456A>G | |
| ENST00000651342.1:c.284A>G | ENSP00000498471.1:p.His95Arg |