Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868691T>C , CM000664.2:g.240868691T>C | GRCh38 |
| NC_000002.11:g.241808108T>C , CM000664.1:g.241808108T>C | GRCh37 |
| NC_000002.10:g.241456781T>C | NCBI36 |
| NG_008005.1:g.4947T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-175T>C | ENSP00000302620.3:n.-175T>C | |
| XR_924060.1:n.405+1542A>G |