Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112782600C>A , CM000664.2:g.112782600C>A | GRCh38 |
| NC_000002.11:g.113540177C>A , CM000664.1:g.113540177C>A | GRCh37 |
| NC_000002.10:g.113256648C>A | NCBI36 |
| NG_008850.1:g.7795G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000575.5:c.96+116G>T MANE Select | NP_000566.3:n.96+116G>T |
| ENST00000263339.4:c.96+116G>T MANE Select | ENSP00000263339.3:n.96+116G>T |
| NM_000575.3:c.96+116G>T | NP_000566.3:n.96+116G>T |
| NM_000575.4:c.96+116G>T | NP_000566.3:n.96+116G>T |
| NM_001371554.1:c.96+116G>T | NP_001358483.1:n.96+116G>T |
| ENST00000263339.3:c.96+116G>T | ENSP00000263339.3:n.96+116G>T |