Linked Data
dbSNP Id:
rs1448190
gnomAD v2:
2-112375963-A-C
gnomAD v3:
2-111618386-A-C
gnomAD v4:
2-111618386-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111618386A>C , CM000664.2:g.111618386A>C | GRCh38 |
| NC_000002.11:g.112375963A>C , CM000664.1:g.112375963A>C | GRCh37 |
| NC_000002.10:g.112092434A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643447.1:c.920-3776T>G | ENSP00000494863.1:n.920-3776T>G | |
| XR_001739641.1:n.1442T>G |