Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17084962G>A , CM000684.2:g.17084962G>A | GRCh38 |
| NC_000022.10:g.17565852G>A , CM000684.1:g.17565852G>A | GRCh37 |
| NC_000022.9:g.15945852G>A | NCBI36 |
| NG_028257.1:g.5002G>A , LRG_355:g.5002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319363.10:c.-130G>A | ENSP00000320936.6:n.-130G>A | |
| ENST00000477874.1:n.9G>A | ||
| ENST00000612619.1:c.-130G>A | ENSP00000479970.1:n.-130G>A | |
| NM_001289905.1:c.-130G>A | NP_001276834.1:n.-130G>A | |
| NM_014339.6:c.-130G>A , LRG_355t1:c.-130G>A | NP_055154.3:n.-130G>A |