gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99329262C>G , CM000666.2:g.99329262C>G | GRCh38 |
| NC_000004.11:g.100250419C>G , CM000666.1:g.100250419C>G | GRCh37 |
| NC_000004.10:g.100469442C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639454.1:c.19-10376G>C | ENSP00000491622.1:n.19-10376G>C |