Linked Data
ClinVar Variation Id:
3068934
ClinVar RCV Id:
RCV003994994
dbSNP Id:
rs1481467751
gnomAD v3:
1-1535466-C-G
gnomAD v4:
1-1535466-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535466C>G , CM000663.2:g.1535466C>G | GRCh38 |
| NC_000001.10:g.1470846C>G , CM000663.1:g.1470846C>G | GRCh37 |
| NC_000001.9:g.1460709C>G | NCBI36 |
| NG_041807.1:g.9895G>C | |
| NG_053035.1:g.28324C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.415G>C MANE Select | ENSP00000368007.4:p.Glu139Gln | |
| ENST00000378733.8:c.415G>C | ENSP00000368007.4:p.Glu139Gln | |
| ENST00000425828.1:c.415G>C | ENSP00000400311.1:p.Glu139Gln | |
| NM_001114748.1:c.415G>C | NP_001108220.1:p.Glu139Gln | |
| NM_001114748.2:c.415G>C MANE Select | NP_001108220.1:p.Glu139Gln |