Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97852049C>G , CM000671.2:g.97852049C>G | GRCh38 |
| NC_000009.11:g.100614331C>G , CM000671.1:g.100614331C>G | GRCh37 |
| NC_000009.10:g.99654152C>G | NCBI36 |
| NG_011979.1:g.3795C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147055.1:n.165+867G>C | |
| XR_930158.1:n.218+827G>C | |
| XR_930159.1:n.218+827G>C | |
| XR_930160.1:n.218+827G>C | |
| XR_930161.1:n.218+827G>C |