Linked Data
ClinVar Variation Id:
1960647
ClinVar RCV Id:
RCV002715601
dbSNP Id:
rs370689065
ExAC:
12:58159865 C / T
gnomAD v2:
12-58159865-C-T
gnomAD v3:
12-57766082-C-T
gnomAD v4:
12-57766082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766082C>T , CM000674.2:g.57766082C>T | GRCh38 |
| NC_000012.11:g.58159865C>T , CM000674.1:g.58159865C>T | GRCh37 |
| NC_000012.10:g.56446132C>T | NCBI36 |
| NG_007076.1:g.6112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.223G>A | ||
| ENST00000713544.1:c.311G>A | ENSP00000518840.1:p.Arg104Gln | |
| ENST00000713545.1:c.311G>A | ENSP00000518841.1:p.Arg104Gln | |
| ENST00000228606.9:c.311G>A MANE Select | ENSP00000228606.4:p.Arg104Gln | |
| ENST00000228606.8:c.311G>A | ENSP00000228606.4:p.Arg104Gln | |
| ENST00000546496.1:n.139G>A | ||
| ENST00000546609.1:c.223G>A | ||
| ENST00000547344.5:n.365G>A | ||
| ENST00000552186.1:n.430G>A | ||
| NM_000785.3:c.311G>A | NP_000776.1:p.Arg104Gln | |
| NM_000785.4:c.311G>A MANE Select | NP_000776.1:p.Arg104Gln |