Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041521C>T , CM000674.2:g.56041521C>T | GRCh38 |
| NC_000012.11:g.56435305C>T , CM000674.1:g.56435305C>T | GRCh37 |
| NC_000012.10:g.54721572C>T | NCBI36 |
| NG_023201.1:g.4620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-357+125C>T | ENSP00000348849.5:n.-357+125C>T | |
| XR_944989.1:n.192G>A | ||
| XR_944990.1:n.192G>A | ||
| XR_944989.3:n.483G>A | ||
| XR_944990.3:n.483G>A |