Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106780C>G , CM000681.2:g.1106780C>G | GRCh38 |
| NC_000019.9:g.1106779C>G , CM000681.1:g.1106779C>G | GRCh37 |
| NC_000019.8:g.1057779C>G | NCBI36 |
| NG_050621.1:g.7855C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706713.1:c.*208C>G | ENSP00000516510.1:n.*208C>G | |
| ENST00000354171.12:c.*208C>G | ENSP00000346103.7:n.*208C>G | |
| ENST00000588919.5:c.*14C>G | ENSP00000464989.3:n.*14C>G | |
| ENST00000592940.2:n.1173C>G | ||
| ENST00000616066.4:c.*208C>G | ENSP00000485000.1:n.*208C>G | |
| ENST00000622390.4:c.*208C>G | ENSP00000477503.1:n.*208C>G | |
| NM_001039847.2:c.*140C>G | NP_001034936.1:n.*140C>G | |
| NM_001039848.2:c.*208C>G | NP_001034937.1:n.*208C>G | |
| NM_002085.4:c.*208C>G | NP_002076.2:n.*208C>G | |
| NM_001039848.3:c.*208C>G | NP_001034937.1:n.*208C>G |