Linked Data
ClinVar Variation Id:
352760
ClinVar RCV Id:
RCV000261480
dbSNP Id:
rs760267846
gnomAD v2:
5-171762935-T-C
gnomAD v3:
5-172335931-T-C
gnomAD v4:
5-172335931-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172335931T>C , CM000667.2:g.172335931T>C | GRCh38 |
| NC_000005.9:g.171762935T>C , CM000667.1:g.171762935T>C | GRCh37 |
| NC_000005.8:g.171695540T>C | NCBI36 |
| NG_027746.1:g.123593A>G | |
| NG_027746.2:g.123593A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311601.6:c.*2438A>G MANE Select | ENSP00000309714.5:n.*2438A>G | |
| ENST00000636523.1:c.1228+10205A>G | ||
| ENST00000311601.5:c.*2438A>G | ENSP00000309714.5:n.*2438A>G | |
| ENST00000518522.5:c.201-2162A>G | ||
| ENST00000519643.5:c.1188+10205A>G | ENSP00000430890.1:n.1188+10205A>G | |
| NM_001017995.2:c.*2438A>G | NP_001017995.1:n.*2438A>G | |
| NM_001308175.1:c.1188+10205A>G | NP_001295104.1:n.1188+10205A>G | |
| XM_017009351.1:c.*2438A>G | XP_016864840.1:n.*2438A>G | |
| NM_001017995.3:c.*2438A>G MANE Select | NP_001017995.1:n.*2438A>G | |
| NM_001308175.2:c.1188+10205A>G | NP_001295104.1:n.1188+10205A>G |