dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15549498C>T , CM000686.2:g.15549498C>T | GRCh38 |
| NC_000024.9:g.17661378C>T , CM000686.1:g.17661378C>T | GRCh37 |
| NC_000024.8:g.16170772C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412493.1:n.144-113C>T |