Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94018446G>T , CM000663.2:g.94018446G>T | GRCh38 |
| NC_000001.10:g.94484002G>T , CM000663.1:g.94484002G>T | GRCh37 |
| NC_000001.9:g.94256590G>T | NCBI36 |
| NG_009073.1:g.107704C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5196+1136C>A MANE Select | NP_000341.2:n.5196+1136C>A |
| ENST00000370225.4:c.5196+1136C>A MANE Select | ENSP00000359245.3:n.5196+1136C>A |
| NM_000350.2:c.5196+1136C>A | NP_000341.2:n.5196+1136C>A |
| ENST00000370225.3:c.5196+1136C>A | ENSP00000359245.3:n.5196+1136C>A |
| ENST00000536513.5:c.1572+1136C>A | ENSP00000439707.2:n.1572+1136C>A |