Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270430C>T , CM000668.2:g.31270430C>T | GRCh38 |
| NC_000006.11:g.31238207C>T , CM000668.1:g.31238207C>T | GRCh37 |
| NC_000006.10:g.31346186C>T | NCBI36 |
| NG_029422.2:g.6702G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.675G>A MANE Select | ENSP00000365402.5:p.Leu225= | |
| ENST00000376228.9:c.675G>A | ENSP00000365402.5:p.Leu225= | |
| ENST00000376237.8:c.*262G>A | ENSP00000365412.4:n.*262G>A | |
| ENST00000383329.7:c.675G>A | ENSP00000372819.3:p.Leu225= | |
| ENST00000415537.1:c.664+9G>A | ||
| ENST00000487245.5:n.1034G>A | ||
| ENST00000495835.1:n.864G>A | ||
| NM_002117.5:c.675G>A | NP_002108.4:p.Leu225= | |
| NM_002117.6:c.675G>A MANE Select | NP_002108.4:p.Leu225= |