Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041231T>C , CM000663.2:g.94041231T>C | GRCh38 |
| NC_000001.10:g.94506787T>C , CM000663.1:g.94506787T>C | GRCh37 |
| NC_000001.9:g.94279375T>C | NCBI36 |
| NG_009073.1:g.84919A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3500A>G MANE Select | ENSP00000359245.3:p.Gln1167Arg | |
| ENST00000370225.3:c.3500A>G | ENSP00000359245.3:p.Gln1167Arg | |
| ENST00000536513.5:c.-64-1142A>G | ENSP00000439707.2:n.-64-1142A>G | |
| NM_000350.2:c.3500A>G | NP_000341.2:p.Gln1167Arg | |
| NM_000350.3:c.3500A>G MANE Select | NP_000341.2:p.Gln1167Arg |