Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270355C>G , CM000668.2:g.31270355C>G | GRCh38 |
| NC_000006.11:g.31238132C>G , CM000668.1:g.31238132C>G | GRCh37 |
| NC_000006.10:g.31346111C>G | NCBI36 |
| NG_029422.2:g.6777G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.750G>C MANE Select | ENSP00000365402.5:p.Gln250His | |
| ENST00000376228.9:c.750G>C | ENSP00000365402.5:p.Gln250His | |
| ENST00000376237.8:c.*337G>C | ENSP00000365412.4:n.*337G>C | |
| ENST00000383329.7:c.750G>C | ENSP00000372819.3:p.Gln250His | |
| ENST00000415537.1:c.665-24G>C | ||
| ENST00000470363.5:n.68G>C | ||
| ENST00000487245.5:n.1109G>C | ||
| ENST00000495835.1:n.939G>C | ||
| NM_002117.5:c.750G>C | NP_002108.4:p.Gln250His | |
| NM_002117.6:c.750G>C MANE Select | NP_002108.4:p.Gln250His |