Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46317564G>A , CM000673.2:g.46317564G>A | GRCh38 |
| NC_000011.9:g.46339115G>A , CM000673.1:g.46339115G>A | GRCh37 |
| NC_000011.8:g.46295691G>A | NCBI36 |
| NG_033264.1:g.44927G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052854.4:c.1258+77G>A MANE Select | NP_443086.1:n.1258+77G>A |
| ENST00000621158.5:c.1258+77G>A MANE Select | ENSP00000481956.1:n.1258+77G>A |
| NM_052854.3:c.1258+77G>A | NP_443086.1:n.1258+77G>A |
| ENST00000534616.5:n.729+77G>A | |
| ENST00000616094.1:n.852+77G>A | |
| ENST00000621158.4:c.1258+77G>A | ENSP00000481956.1:n.1258+77G>A |