Linked Data
ClinVar Variation Id:
39538
ClinVar RCV Id:
RCV000032736
dbSNP Id:
rs397514526
ExAC:
17:7989346 G / A
gnomAD v2:
17-7989346-G-A
gnomAD v3:
17-8086028-G-A
gnomAD v4:
17-8086028-G-A
PubMed:
PMID:16116617
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086028G>A , CM000679.2:g.8086028G>A | GRCh38 |
| NC_000017.10:g.7989346G>A , CM000679.1:g.7989346G>A | GRCh37 |
| NC_000017.9:g.7930071G>A | NCBI36 |
| NG_007099.1:g.6676C>T | |
| NG_007099.2:g.6689C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647874.1:c.340C>T MANE Select | ENSP00000497784.1:p.Arg114Trp | |
| ENST00000319144.4:c.340C>T | ENSP00000315167.4:p.Arg114Trp | |
| NM_001139.2:c.340C>T | NP_001130.1:p.Arg114Trp | |
| NM_001139.3:c.340C>T MANE Select | NP_001130.1:p.Arg114Trp |