Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.658808G>A , CM000685.2:g.658808G>A | GRCh38 |
| NC_000023.10:g.619543G>A , CM000685.1:g.619543G>A | GRCh37 |
| NC_000023.9:g.539543G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334060.8:c.657G>A | ENSP00000335505.3:p.Pro219= | |
| ENST00000381575.6:c.657G>A | ENSP00000370987.1:p.Pro219= |