Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145707383A>C , CM000663.2:g.145707383A>C | GRCh38 |
| NG_050630.2:g.5819T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417171.5:c.-69T>G | ENSP00000394485.1:n.-69T>G | |
| ENST00000443667.1:c.-69T>G | ENSP00000409291.1:n.-69T>G | |
| ENST00000451928.6:c.-69T>G | ENSP00000403422.2:n.-69T>G | |
| XM_017001467.2:c.-553T>G | XP_016856956.1:n.-553T>G |