Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097258C>T , CM000663.2:g.40097258C>T | GRCh38 |
| NC_000001.10:g.40562930C>T , CM000663.1:g.40562930C>T | GRCh37 |
| NC_000001.9:g.40335517C>T | NCBI36 |
| NG_009192.1:g.5213G>A , LRG_690:g.5213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449045.7:c.-20G>A | ENSP00000392293.2:n.-20G>A | |
| ENST00000433473.7:c.-20G>A | ENSP00000394863.3:n.-20G>A | |
| NM_000310.3:c.-20G>A , LRG_690t1:c.-20G>A | NP_000301.1:n.-20G>A | |
| NM_001142604.1:c.-20G>A | NP_001136076.1:n.-20G>A | |
| NM_001363695.1:c.-20G>A | NP_001350624.1:n.-20G>A |