Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150214694C>T , CM000667.2:g.150214694C>T | GRCh38 |
| NC_000005.9:g.149594257C>T , CM000667.1:g.149594257C>T | GRCh37 |
| NC_000005.8:g.149574450C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524041.1:c.1830-2850C>T | ENSP00000428200.1:n.1830-2850C>T |