Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008300G>A , CM000663.2:g.94008300G>A | GRCh38 |
| NC_000001.10:g.94473856G>A , CM000663.1:g.94473856G>A | GRCh37 |
| NC_000001.9:g.94246444G>A | NCBI36 |
| NG_009073.1:g.117850C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.5836-3C>T MANE Select | ENSP00000359245.3:n.5836-3C>T | |
| ENST00000370225.3:c.5836-3C>T | ENSP00000359245.3:n.5836-3C>T | |
| ENST00000465352.1:n.252-3C>T | ||
| ENST00000536513.5:c.2212-3C>T | ENSP00000439707.2:n.2212-3C>T | |
| NM_000350.2:c.5836-3C>T | NP_000341.2:n.5836-3C>T | |
| NM_000350.3:c.5836-3C>T MANE Select | NP_000341.2:n.5836-3C>T |