Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271098G>T , CM000668.2:g.31271098G>T | GRCh38 |
| NC_000006.11:g.31238875G>T , CM000668.1:g.31238875G>T | GRCh37 |
| NC_000006.10:g.31346854G>T | NCBI36 |
| NG_029422.2:g.6034C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.594C>A MANE Select | NP_002108.4:p.Asn198Lys |
| ENST00000376228.10:c.594C>A MANE Select | ENSP00000365402.5:p.Asn198Lys |
| NM_002117.5:c.594C>A | NP_002108.4:p.Asn198Lys |
| ENST00000376228.9:c.594C>A | ENSP00000365402.5:p.Asn198Lys |
| ENST00000376237.8:c.*181C>A | ENSP00000365412.4:n.*181C>A |
| ENST00000383329.7:c.594C>A | ENSP00000372819.3:p.Asn198Lys |
| ENST00000415537.1:c.592C>A | |
| ENST00000487245.5:n.953C>A | |
| ENST00000495835.1:n.783C>A |