Linked Data
ClinVar Variation Id:
14984
dbSNP Id:
rs7482144
gnomAD v2:
11-5276169-G-A
gnomAD v3:
11-5254939-G-A
gnomAD v4:
11-5254939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254939G>A , CM000673.2:g.5254939G>A | GRCh38 |
| NC_000011.9:g.5276169G>A , CM000673.1:g.5276169G>A | GRCh37 |
| NC_000011.8:g.5232745G>A | NCBI36 |
| NG_000007.3:g.42677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380252.6:c.-73-425C>T | ENSP00000369602.2:n.-73-425C>T | |
| ENST00000380259.7:c.1336C>T | ENSP00000369609.3:n.1336C>T | |
| ENST00000643199.1:n.1279C>T | ||
| ENST00000646569.1:n.506C>T | ||
| ENST00000380252.5:c.63-425C>T | ENSP00000369602.1:n.63-425C>T | |
| ENST00000380259.6:c.-211C>T | ENSP00000369609.2:n.-211C>T |