Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042037T>G , CM000674.2:g.56042037T>G | GRCh38 |
| NC_000012.11:g.56435821T>G , CM000674.1:g.56435821T>G | GRCh37 |
| NC_000012.10:g.54722088T>G | NCBI36 |
| NG_023201.1:g.5136T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-130T>G | ENSP00000348849.5:n.-130T>G | |
| ENST00000646449.2:c.-130T>G MANE Select | ENSP00000496643.1:n.-130T>G | |
| ENST00000356464.9:c.-130T>G | ENSP00000348849.5:n.-130T>G | |
| ENST00000552361.1:c.-62T>G | ENSP00000450339.1:n.-62T>G | |
| NM_001029.3:c.-130T>G | NP_001020.2:n.-130T>G | |
| NM_001029.5:c.-130T>G MANE Select | NP_001020.2:n.-130T>G |