Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218171C>G , CM000671.2:g.99218171C>G | GRCh38 |
| NC_000009.11:g.101980453C>G , CM000671.1:g.101980453C>G | GRCh37 |
| NC_000009.10:g.101020274C>G | NCBI36 |
| NG_008928.1:g.8794G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.1014G>C MANE Select | NP_149078.1:p.Gln338His |
| ENST00000476832.2:c.1014G>C MANE Select | ENSP00000417764.1:p.Gln338His |
| NM_033087.3:c.1014G>C | NP_149078.1:p.Gln338His |
| NR_024532.1:n.1243G>C | |
| NR_024532.2:n.1221G>C | |
| ENST00000238477.5:c.*756G>C | ENSP00000432675.2:n.*756G>C |
| ENST00000319033.7:c.735G>C | ENSP00000326609.6:p.Gln245His |
| ENST00000476832.1:c.1014G>C | ENSP00000417764.1:p.Gln338His |