Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313808G>A , CM000672.2:g.30313808G>A | GRCh38 |
| NC_000010.10:g.30602737G>A , CM000672.1:g.30602737G>A | GRCh37 |
| NC_000010.9:g.30642743G>A | NCBI36 |
| NG_028096.1:g.40531C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018109.4:c.1550C>T MANE Select | NP_060579.3:p.Pro517Leu |
| ENST00000263063.9:c.1550C>T MANE Select | ENSP00000263063.3:p.Pro517Leu |
| NM_018109.3:c.1550C>T | NP_060579.3:p.Pro517Leu |
| ENST00000263063.8:c.1550C>T | ENSP00000263063.3:p.Pro517Leu |
| ENST00000488290.5:n.3305C>T |