Linked Data
ClinVar Variation Id:
15460
dbSNP Id:
rs33944208
gnomAD v2:
11-5248389-G-A
gnomAD v3:
11-5227159-G-A
gnomAD v4:
11-5227159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227159G>A , CM000673.2:g.5227159G>A | GRCh38 |
| NC_000011.9:g.5248389G>A , CM000673.1:g.5248389G>A | GRCh37 |
| NC_000011.8:g.5204965G>A | NCBI36 |
| NG_000007.3:g.70457C>T | |
| NG_059281.1:g.4913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-138C>T | ENSP00000494175.1:n.-138C>T | |
| ENST00000380315.2:c.-18-120C>T | ENSP00000369671.2:n.-18-120C>T |