Linked Data
ClinVar Variation Id:
1270131
ClinVar RCV Id:
RCV001684289
dbSNP Id:
rs3027302
gnomAD v2:
17-7989047-G-T
gnomAD v3:
17-8085729-G-T
gnomAD v4:
17-8085729-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8085729G>T , CM000679.2:g.8085729G>T | GRCh38 |
| NC_000017.10:g.7989047G>T , CM000679.1:g.7989047G>T | GRCh37 |
| NC_000017.9:g.7929772G>T | NCBI36 |
| NG_007099.1:g.6975C>A | |
| NG_007099.2:g.6988C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.352+287C>A MANE Select | ENSP00000497784.1:n.352+287C>A | |
| ENST00000319144.4:c.352+287C>A | ENSP00000315167.4:n.352+287C>A | |
| NM_001139.2:c.352+287C>A | NP_001130.1:n.352+287C>A | |
| NM_001139.3:c.352+287C>A MANE Select | NP_001130.1:n.352+287C>A |