Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97852835C>G , CM000671.2:g.97852835C>G | GRCh38 |
| NC_000009.11:g.100615117C>G , CM000671.1:g.100615117C>G | GRCh37 |
| NC_000009.10:g.99654938C>G | NCBI36 |
| NG_011979.1:g.4581C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147055.1:n.165+81G>C | |
| XR_930158.1:n.218+41G>C | |
| XR_930159.1:n.218+41G>C | |
| XR_930160.1:n.218+41G>C | |
| XR_930161.1:n.218+41G>C |