Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66070588G>A , CM000673.2:g.66070588G>A | GRCh38 |
| NC_000011.9:g.65838059G>A , CM000673.1:g.65838059G>A | GRCh37 |
| NC_000011.8:g.65594635G>A | NCBI36 |
| NG_033900.1:g.5236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.102G>A MANE Select | ENSP00000316454.4:p.Pro34= | |
| ENST00000320580.8:c.102G>A | ENSP00000316454.4:p.Pro34= | |
| ENST00000527224.1:n.226G>A | ||
| NM_018026.3:c.102G>A | NP_060496.2:p.Pro34= | |
| XR_001747924.1:n.313G>A | ||
| NM_018026.4:c.102G>A MANE Select | NP_060496.2:p.Pro34= |