Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151556120A>C , CM000669.2:g.151556120A>C | GRCh38 |
| NC_000007.13:g.151253206A>C , CM000669.1:g.151253206A>C | GRCh37 |
| NC_000007.12:g.150884139A>C | NCBI36 |
| NG_007486.1:g.326111T>G | |
| NG_007486.2:g.326112T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287878.8:c.*1081T>G | ENSP00000287878.3:n.*1081T>G | |
| NM_001040633.1:c.*1081T>G | NP_001035723.1:n.*1081T>G | |
| NM_001304527.1:c.*1081T>G | NP_001291456.1:n.*1081T>G | |
| NM_001304531.1:c.*1081T>G | NP_001291460.1:n.*1081T>G | |
| NM_016203.3:c.*1081T>G | NP_057287.2:n.*1081T>G | |
| NM_024429.1:c.*1081T>G | NP_077747.1:n.*1081T>G | |
| NM_001363698.1:c.*1081T>G | NP_001350627.1:n.*1081T>G |