dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.22213784C>T , CM000686.2:g.22213784C>T | GRCh38 |
| NC_000024.9:g.24359931C>T , CM000686.1:g.24359931C>T | GRCh37 |
| NC_000024.8:g.22769319C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423480.1:n.361+1183C>T |