Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8080883C>T , CM000679.2:g.8080883C>T | GRCh38 |
| NC_000017.10:g.7984201C>T , CM000679.1:g.7984201C>T | GRCh37 |
| NC_000017.9:g.7924926C>T | NCBI36 |
| NG_007099.1:g.11821G>A | |
| NG_007099.2:g.11834G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.527+1G>A MANE Select | NP_001130.1:n.527+1G>A |
| ENST00000647874.1:c.527+1G>A MANE Select | ENSP00000497784.1:n.527+1G>A |
| NM_001139.2:c.527+1G>A | NP_001130.1:n.527+1G>A |
| ENST00000319144.4:c.527+1G>A | ENSP00000315167.4:n.527+1G>A |
| XR_001752778.1:n.1112C>T |