Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97851858T>C , CM000671.2:g.97851858T>C | GRCh38 |
| NC_000009.11:g.100614140T>C , CM000671.1:g.100614140T>C | GRCh37 |
| NC_000009.10:g.99653961T>C | NCBI36 |
| NG_011979.1:g.3604T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147055.1:n.165+1058A>G | |
| XR_930158.1:n.218+1018A>G | |
| XR_930159.1:n.218+1018A>G | |
| XR_930160.1:n.218+1018A>G | |
| XR_930161.1:n.218+1018A>G |