Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63542188C>A , CM000682.2:g.63542188C>A | GRCh38 |
| NC_000020.10:g.62173541C>A , CM000682.1:g.62173541C>A | GRCh37 |
| NC_000020.9:g.61643985C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217188.2:c.921G>T MANE Select | ENSP00000217188.1:p.Lys307Asn | |
| ENST00000217188.1:c.921G>T | ENSP00000217188.1:p.Lys307Asn | |
| NM_080823.3:c.921G>T | NP_543013.1:p.Lys307Asn | |
| NM_080823.4:c.921G>T MANE Select | NP_543013.1:p.Lys307Asn |