Linked Data
ClinVar Variation Id:
2301172
ClinVar RCV Id:
RCV002873881
dbSNP Id:
rs548176807
ExAC:
12:58159976 T / C
gnomAD v2:
12-58159976-T-C
gnomAD v3:
12-57766193-T-C
gnomAD v4:
12-57766193-T-C
COSMIC:
COSM6433470
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766193T>C , CM000674.2:g.57766193T>C | GRCh38 |
| NC_000012.11:g.58159976T>C , CM000674.1:g.58159976T>C | GRCh37 |
| NC_000012.10:g.56446243T>C | NCBI36 |
| NG_007076.1:g.6001A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.112A>G | ||
| ENST00000713544.1:c.200A>G | ENSP00000518840.1:p.Gln67Arg | |
| ENST00000713545.1:c.200A>G | ENSP00000518841.1:p.Gln67Arg | |
| ENST00000228606.9:c.200A>G MANE Select | ENSP00000228606.4:p.Gln67Arg | |
| ENST00000228606.8:c.200A>G | ENSP00000228606.4:p.Gln67Arg | |
| ENST00000546496.1:n.28A>G | ||
| ENST00000546609.1:c.112A>G | ||
| ENST00000547344.5:n.254A>G | ||
| ENST00000552186.1:n.319A>G | ||
| NM_000785.3:c.200A>G | NP_000776.1:p.Gln67Arg | |
| NM_000785.4:c.200A>G MANE Select | NP_000776.1:p.Gln67Arg |