Linked Data
ClinVar Variation Id:
2465056
ClinVar RCV Id:
RCV004258175
dbSNP Id:
rs547997386
ExAC:
4:135121526 G / C
gnomAD v2:
4-135121526-G-C
gnomAD v3:
4-134200371-G-C
gnomAD v4:
4-134200371-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200371G>C , CM000666.2:g.134200371G>C | GRCh38 |
| NC_000004.11:g.135121526G>C , CM000666.1:g.135121526G>C | GRCh37 |
| NC_000004.10:g.135340976G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.649C>G MANE Select | ENSP00000463233.1:p.Leu217Val | |
| ENST00000421491.3:c.649C>G | ENSP00000463233.1:p.Leu217Val | |
| NM_001114734.1:c.823C>G | NP_001108206.2:p.Leu275Val | |
| NM_001114734.2:c.649C>G MANE Select | NP_001108206.3:p.Leu217Val | |
| NM_001363585.1:c.649C>G | NP_001350514.1:p.Leu217Val | |
| XR_001741133.1:n.1188C>G | ||
| XR_001741134.1:n.1188C>G | ||
| XR_001741135.1:n.1188C>G | ||
| XR_001741136.1:n.1188C>G | ||
| XR_001741137.1:n.1188C>G | ||
| XR_001741138.1:n.1188C>G | ||
| XR_001741139.1:n.1183C>G |