dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184148698C>T , CM000665.2:g.184148698C>T | GRCh38 |
| NC_000003.11:g.183866486C>T , CM000665.1:g.183866486C>T | GRCh37 |
| NC_000003.10:g.185349180C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444495.1:c.2106+3991C>T | ENSP00000409142.1:n.2106+3991C>T |