Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271162G>C , CM000668.2:g.31271162G>C | GRCh38 |
| NC_000006.11:g.31238939G>C , CM000668.1:g.31238939G>C | GRCh37 |
| NC_000006.10:g.31346918G>C | NCBI36 |
| NG_029422.2:g.5970C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.530C>G MANE Select | ENSP00000365402.5:p.Ala177Gly | |
| ENST00000376228.9:c.530C>G | ENSP00000365402.5:p.Ala177Gly | |
| ENST00000376237.8:c.*117C>G | ENSP00000365412.4:n.*117C>G | |
| ENST00000383329.7:c.530C>G | ENSP00000372819.3:p.Ala177Gly | |
| ENST00000415537.1:c.528C>G | ||
| ENST00000484378.1:n.799C>G | ||
| ENST00000487245.5:n.889C>G | ||
| ENST00000495835.1:n.719C>G | ||
| NM_002117.5:c.530C>G | NP_002108.4:p.Ala177Gly | |
| NM_002117.6:c.530C>G MANE Select | NP_002108.4:p.Ala177Gly |