Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313824C>T , CM000672.2:g.30313824C>T | GRCh38 |
| NC_000010.10:g.30602753C>T , CM000672.1:g.30602753C>T | GRCh37 |
| NC_000010.9:g.30642759C>T | NCBI36 |
| NG_028096.1:g.40515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1534G>A MANE Select | ENSP00000263063.3:p.Glu512Lys | |
| ENST00000263063.8:c.1534G>A | ENSP00000263063.3:p.Glu512Lys | |
| ENST00000488290.5:n.3289G>A | ||
| NM_018109.3:c.1534G>A | NP_060579.3:p.Glu512Lys | |
| NM_018109.4:c.1534G>A MANE Select | NP_060579.3:p.Glu512Lys |