Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270357G>C , CM000668.2:g.31270357G>C | GRCh38 |
| NC_000006.11:g.31238134G>C , CM000668.1:g.31238134G>C | GRCh37 |
| NC_000006.10:g.31346113G>C | NCBI36 |
| NG_029422.2:g.6775C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.748C>G MANE Select | ENSP00000365402.5:p.Gln250Glu | |
| ENST00000376228.9:c.748C>G | ENSP00000365402.5:p.Gln250Glu | |
| ENST00000376237.8:c.*335C>G | ENSP00000365412.4:n.*335C>G | |
| ENST00000383329.7:c.748C>G | ENSP00000372819.3:p.Gln250Glu | |
| ENST00000415537.1:c.665-26C>G | ||
| ENST00000470363.5:n.66C>G | ||
| ENST00000487245.5:n.1107C>G | ||
| ENST00000495835.1:n.937C>G | ||
| NM_002117.5:c.748C>G | NP_002108.4:p.Gln250Glu | |
| NM_002117.6:c.748C>G MANE Select | NP_002108.4:p.Gln250Glu |