Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94019640T>C , CM000663.2:g.94019640T>C | GRCh38 |
| NC_000001.10:g.94485196T>C , CM000663.1:g.94485196T>C | GRCh37 |
| NC_000001.9:g.94257784T>C | NCBI36 |
| NG_009073.1:g.106510A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5138A>G MANE Select | NP_000341.2:p.Gln1713Arg |
| ENST00000370225.4:c.5138A>G MANE Select | ENSP00000359245.3:p.Gln1713Arg |
| NM_000350.2:c.5138A>G | NP_000341.2:p.Gln1713Arg |
| ENST00000370225.3:c.5138A>G | ENSP00000359245.3:p.Gln1713Arg |
| ENST00000460514.1:n.632A>G | |
| ENST00000470771.1:n.248A>G | |
| ENST00000536513.5:c.1514A>G | ENSP00000439707.2:p.Gln505Arg |