Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474783A>G , CM000684.2:g.32474783A>G | GRCh38 |
| NC_000022.10:g.32870770A>G , CM000684.1:g.32870770A>G | GRCh37 |
| NC_000022.9:g.31200770A>G | NCBI36 |
| NG_016001.1:g.5064A>G | |
| NG_016001.2:g.5064A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.11:c.-220A>G | ENSP00000266087.7:n.-220A>G | |
| ENST00000420700.5:c.-220A>G | ENSP00000406155.1:n.-220A>G | |
| NM_012179.3:c.-220A>G | NP_036311.3:n.-220A>G | |
| XM_011530106.1:c.-393A>G | XP_011528408.1:n.-393A>G | |
| XM_024452207.1:c.-410A>G | XP_024307975.1:n.-410A>G |