Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270361C>G , CM000668.2:g.31270361C>G | GRCh38 |
| NC_000006.11:g.31238138C>G , CM000668.1:g.31238138C>G | GRCh37 |
| NC_000006.10:g.31346117C>G | NCBI36 |
| NG_029422.2:g.6771G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.744G>C MANE Select | ENSP00000365402.5:p.Gln248His | |
| ENST00000376228.9:c.744G>C | ENSP00000365402.5:p.Gln248His | |
| ENST00000376237.8:c.*331G>C | ENSP00000365412.4:n.*331G>C | |
| ENST00000383329.7:c.744G>C | ENSP00000372819.3:p.Gln248His | |
| ENST00000415537.1:c.665-30G>C | ||
| ENST00000470363.5:n.62G>C | ||
| ENST00000487245.5:n.1103G>C | ||
| ENST00000495835.1:n.933G>C | ||
| NM_002117.5:c.744G>C | NP_002108.4:p.Gln248His | |
| NM_002117.6:c.744G>C MANE Select | NP_002108.4:p.Gln248His |