Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117832103G>T , CM000673.2:g.117832103G>T | GRCh38 |
| NC_000011.9:g.117702818G>T , CM000673.1:g.117702818G>T | GRCh37 |
| NC_000011.8:g.117208028G>T | NCBI36 |
| NG_011543.1:g.990C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532984.1:c.272+7678C>A | ENSP00000463024.1:n.272+7678C>A | |
| ENST00000614497.5:c.259+7678C>A | ENSP00000482442.1:n.259+7678C>A | |
| NM_001204268.1:c.259+7678C>A | NP_001191197.1:n.259+7678C>A | |
| NM_001243598.2:c.272+7678C>A | NP_001230527.1:n.272+7678C>A | |
| NM_001204268.2:c.259+7678C>A | NP_001191197.1:n.259+7678C>A | |
| NM_001243598.3:c.272+7678C>A | NP_001230527.1:n.272+7678C>A | |
| NM_001204268.3:c.259+7678C>A | NP_001191197.1:n.259+7678C>A | |
| NM_001243598.4:c.272+7678C>A | NP_001230527.1:n.272+7678C>A |