Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99850350C>G , CM000663.2:g.99850350C>G | GRCh38 |
| NC_000001.10:g.100315906C>G , CM000663.1:g.100315906C>G | GRCh37 |
| NC_000001.9:g.100088494C>G | NCBI36 |
| NG_012865.1:g.5267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.7:c.-134C>G | ENSP00000355106.3:n.-134C>G | |
| NM_000642.2:c.-134C>G | NP_000633.2:n.-134C>G | |
| XM_005270557.1:c.-69+249C>G | XP_005270614.1:n.-69+249C>G | |
| XM_005270557.2:c.-69+249C>G | XP_005270614.1:n.-69+249C>G |