Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093433C>A , CM000664.2:g.176093433C>A | GRCh38 |
| NC_000002.11:g.176958161C>A , CM000664.1:g.176958161C>A | GRCh37 |
| NC_000002.10:g.176666407C>A | NCBI36 |
| NG_008137.1:g.5630C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.543C>A MANE Select | ENSP00000376322.3:p.Asn181Lys | |
| ENST00000392539.3:c.543C>A | ENSP00000376322.3:p.Asn181Lys | |
| NM_000523.3:c.543C>A | NP_000514.2:p.Asn181Lys | |
| XM_011511068.1:c.725-1047C>A | XP_011509370.1:n.725-1047C>A | |
| XM_011511068.2:c.725-1047C>A | XP_011509370.1:n.725-1047C>A | |
| NM_000523.4:c.543C>A MANE Select | NP_000514.2:p.Asn181Lys |