Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031778C>A , CM000663.2:g.94031778C>A | GRCh38 |
| NC_000001.10:g.94497334C>A , CM000663.1:g.94497334C>A | GRCh37 |
| NC_000001.9:g.94269922C>A | NCBI36 |
| NG_009073.1:g.94372G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4128G>T MANE Select | NP_000341.2:p.Gln1376His |
| ENST00000370225.4:c.4128G>T MANE Select | ENSP00000359245.3:p.Gln1376His |
| NM_000350.2:c.4128G>T | NP_000341.2:p.Gln1376His |
| ENST00000370225.3:c.4128G>T | ENSP00000359245.3:p.Gln1376His |
| ENST00000536513.5:c.504G>T | ENSP00000439707.2:p.Gln168His |