Linked Data
ClinVar Variation Id:
1439076
dbSNP Id:
rs781260821
ExAC:
5:172660177 T / C
gnomAD v2:
5-172660177-T-C
gnomAD v3:
5-173233174-T-C
gnomAD v4:
5-173233174-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173233174T>C , CM000667.2:g.173233174T>C | GRCh38 |
| NC_000005.9:g.172660177T>C , CM000667.1:g.172660177T>C | GRCh37 |
| NC_000005.8:g.172592783T>C | NCBI36 |
| NG_013340.1:g.7139A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.370A>G MANE Select | ENSP00000327758.4:p.Lys124Glu | |
| ENST00000329198.4:c.370A>G | ENSP00000327758.4:p.Lys124Glu | |
| ENST00000424406.2:c.*323A>G | ENSP00000395378.2:n.*323A>G | |
| ENST00000521848.1:c.*169A>G | ENSP00000427906.1:n.*169A>G | |
| NM_001166175.1:c.*323A>G | NP_001159647.1:n.*323A>G | |
| NM_001166176.1:c.*169A>G | NP_001159648.1:n.*169A>G | |
| NM_004387.3:c.370A>G | NP_004378.1:p.Lys124Glu | |
| NM_004387.4:c.370A>G MANE Select | NP_004378.1:p.Lys124Glu | |
| NM_001166175.2:c.*323A>G | NP_001159647.1:n.*323A>G | |
| NM_001166176.2:c.*169A>G | NP_001159648.1:n.*169A>G |