Linked Data
ClinVar Variation Id:
882404
ClinVar RCV Id:
RCV001112072
dbSNP Id:
rs953436518
gnomAD v3:
12-120739344-G-C
gnomAD v4:
12-120739344-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739344G>C , CM000674.2:g.120739344G>C | GRCh38 |
| NC_000012.11:g.121177147G>C , CM000674.1:g.121177147G>C | GRCh37 |
| NC_000012.10:g.119661530G>C | NCBI36 |
| NG_007991.1:g.18577G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1135G>C MANE Select | ENSP00000242592.4:p.Glu379Gln | |
| ENST00000242592.8:c.1135G>C | ENSP00000242592.4:p.Glu379Gln | |
| ENST00000411593.2:c.1123G>C | ENSP00000401045.2:p.Glu375Gln | |
| NM_000017.3:c.1135G>C | NP_000008.1:p.Glu379Gln | |
| NM_001302554.1:c.1123G>C | NP_001289483.1:p.Glu375Gln | |
| NM_000017.4:c.1135G>C MANE Select | NP_000008.1:p.Glu379Gln | |
| NM_001302554.2:c.1123G>C | NP_001289483.1:p.Glu375Gln |