Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475353G>A , CM000673.2:g.113475353G>A | GRCh38 |
| NC_000011.9:g.113346075G>A , CM000673.1:g.113346075G>A | GRCh37 |
| NC_000011.8:g.112851285G>A | NCBI36 |
| NG_008841.1:g.4927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-309C>T MANE Select | ENSP00000354859.3:n.-309C>T | |
| ENST00000362072.7:c.-309C>T | ENSP00000354859.3:n.-309C>T | |
| ENST00000540600.5:n.34+305C>T | ||
| NM_000795.4:c.-309C>T MANE Select | NP_000786.1:n.-309C>T | |
| NM_016574.4:c.-309C>T | NP_057658.2:n.-309C>T |