Linked Data
ClinVar Variation Id:
2484496
ClinVar RCV Id:
RCV004276833
dbSNP Id:
rs1160108827
gnomAD v2:
4-135121855-T-C
gnomAD v3:
4-134200700-T-C
gnomAD v4:
4-134200700-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200700T>C , CM000666.2:g.134200700T>C | GRCh38 |
| NC_000004.11:g.135121855T>C , CM000666.1:g.135121855T>C | GRCh37 |
| NC_000004.10:g.135341305T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.320A>G MANE Select | ENSP00000463233.1:p.Lys107Arg | |
| ENST00000421491.3:c.320A>G | ENSP00000463233.1:p.Lys107Arg | |
| NM_001114734.1:c.494A>G | NP_001108206.2:p.Lys165Arg | |
| NM_001114734.2:c.320A>G MANE Select | NP_001108206.3:p.Lys107Arg | |
| NM_001363585.1:c.320A>G | NP_001350514.1:p.Lys107Arg | |
| XR_001741133.1:n.859A>G | ||
| XR_001741134.1:n.859A>G | ||
| XR_001741135.1:n.859A>G | ||
| XR_001741136.1:n.859A>G | ||
| XR_001741137.1:n.859A>G | ||
| XR_001741138.1:n.859A>G | ||
| XR_001741139.1:n.854A>G |