Linked Data
ClinVar Variation Id:
309583
ClinVar RCV Id:
RCV000320223
dbSNP Id:
rs542479365
gnomAD v2:
12-53038392-G-A
gnomAD v3:
12-52644608-G-A
gnomAD v4:
12-52644608-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52644608G>A , CM000674.2:g.52644608G>A | GRCh38 |
| NC_000012.11:g.53038392G>A , CM000674.1:g.53038392G>A | GRCh37 |
| NC_000012.10:g.51324659G>A | NCBI36 |
| NG_008296.1:g.12568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.*411C>T MANE Select | ENSP00000310861.3:n.*411C>T | |
| ENST00000309680.3:c.*411C>T | ENSP00000310861.3:n.*411C>T | |
| NM_000423.2:c.*411C>T | NP_000414.2:n.*411C>T | |
| NM_000423.3:c.*411C>T MANE Select | NP_000414.2:n.*411C>T |