Linked Data
dbSNP Id:
rs2074385
gnomAD v2:
4-113378649-C-A
gnomAD v3:
4-112457493-C-A
gnomAD v4:
4-112457493-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112457493C>A , CM000666.2:g.112457493C>A | GRCh38 |
| NC_000004.11:g.113378649C>A , CM000666.1:g.113378649C>A | GRCh37 |
| NC_000004.10:g.113598098C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000514955.1:n.1570C>A |