Linked Data
ClinVar Variation Id:
2908434
ClinVar RCV Id:
RCV003729801
dbSNP Id:
rs756350391
ExAC:
12:53045863 A / G
gnomAD v2:
12-53045863-A-G
gnomAD v3:
12-52652079-A-G
gnomAD v4:
12-52652079-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652079A>G , CM000674.2:g.52652079A>G | GRCh38 |
| NC_000012.11:g.53045863A>G , CM000674.1:g.53045863A>G | GRCh37 |
| NC_000012.10:g.51332130A>G | NCBI36 |
| NG_008296.1:g.5097T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.64T>C MANE Select | ENSP00000310861.3:p.Phe22Leu | |
| ENST00000309680.3:c.64T>C | ENSP00000310861.3:p.Phe22Leu | |
| NM_000423.2:c.64T>C | NP_000414.2:p.Phe22Leu | |
| NM_000423.3:c.64T>C MANE Select | NP_000414.2:p.Phe22Leu |