Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060805A>G , CM000681.2:g.49060805A>G | GRCh38 |
| NC_000019.9:g.49564062A>G , CM000681.1:g.49564062A>G | GRCh37 |
| NC_000019.8:g.54255874A>G | NCBI36 |
| NG_016289.1:g.8063T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599795.5:c.243+950T>C | ENSP00000470689.1:n.243+950T>C | |
| XM_011527575.1:c.-53T>C | XP_011525877.1:n.-53T>C | |
| XR_001753693.1:n.879+359T>C | ||
| XR_001753694.1:n.884T>C |