gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152577542T>C , CM000663.2:g.152577542T>C | GRCh38 |
| NC_000001.10:g.152550018T>C , CM000663.1:g.152550018T>C | GRCh37 |
| NC_000001.9:g.150816642T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617545.1:c.45-23249T>C | ENSP00000482477.1:n.45-23249T>C |