Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030527C>T , CM000663.2:g.94030527C>T | GRCh38 |
| NC_000001.10:g.94496083C>T , CM000663.1:g.94496083C>T | GRCh37 |
| NC_000001.9:g.94268671C>T | NCBI36 |
| NG_009073.1:g.95623G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4254-1G>A MANE Select | NP_000341.2:n.4254-1G>A |
| ENST00000370225.4:c.4254-1G>A MANE Select | ENSP00000359245.3:n.4254-1G>A |
| NM_000350.2:c.4254-1G>A | NP_000341.2:n.4254-1G>A |
| ENST00000370225.3:c.4254-1G>A | ENSP00000359245.3:n.4254-1G>A |
| ENST00000536513.5:c.630-1G>A | ENSP00000439707.2:n.630-1G>A |