Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97851719C>T , CM000671.2:g.97851719C>T | GRCh38 |
| NC_000009.11:g.100614001C>T , CM000671.1:g.100614001C>T | GRCh37 |
| NC_000009.10:g.99653822C>T | NCBI36 |
| NG_011979.1:g.3465C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147055.1:n.165+1197G>A | |
| XR_930158.1:n.218+1157G>A | |
| XR_930159.1:n.218+1157G>A | |
| XR_930160.1:n.218+1157G>A | |
| XR_930161.1:n.218+1157G>A |