Linked Data
ClinVar Variation Id:
66567
ClinVar RCV Id:
RCV000056987
dbSNP Id:
rs267607468
gnomAD v2:
12-52882155-C-G
gnomAD v4:
12-52488371-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488371C>G , CM000674.2:g.52488371C>G | GRCh38 |
| NC_000012.11:g.52882155C>G , CM000674.1:g.52882155C>G | GRCh37 |
| NC_000012.10:g.51168422C>G | NCBI36 |
| NG_008298.1:g.10027G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1381G>C MANE Select | ENSP00000369317.3:p.Glu461Gln | |
| ENST00000330722.6:c.1381G>C | ENSP00000369317.3:p.Glu461Gln | |
| NM_005554.3:c.1381G>C | NP_005545.1:p.Glu461Gln | |
| NM_005554.4:c.1381G>C MANE Select | NP_005545.1:p.Glu461Gln |