Linked Data
ClinVar Variation Id:
534604
dbSNP Id:
rs191244915
ExAC:
18:43435600 T / C
gnomAD v2:
18-43435600-T-C
gnomAD v3:
18-45855635-T-C
gnomAD v4:
18-45855635-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45855635T>C , CM000680.2:g.45855635T>C | GRCh38 |
| NC_000018.9:g.43435600T>C , CM000680.1:g.43435600T>C | GRCh37 |
| NC_000018.8:g.41689598T>C | NCBI36 |
| NG_042838.1:g.116705A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.5756A>G | ||
| ENST00000587884.2:c.7621A>G | ENSP00000466990.2:n.7621A>G | |
| ENST00000587973.2:n.3360A>G | ||
| ENST00000590884.6:c.7156A>G | ENSP00000466403.2:n.7156A>G | |
| ENST00000592272.6:c.7388A>G | ENSP00000467464.2:n.7388A>G | |
| ENST00000696481.1:n.4074+2218A>G | ||
| ENST00000696482.1:c.7182+2218A>G | ENSP00000512656.1:n.7182+2218A>G | |
| ENST00000696483.1:c.7495A>G | ENSP00000512657.1:p.Met2499Val | |
| ENST00000696484.1:c.7442+2218A>G | ENSP00000512658.1:n.7442+2218A>G | |
| ENST00000696485.1:c.*2087A>G | ENSP00000512659.1:n.*2087A>G | |
| ENST00000696489.1:c.7492A>G | ENSP00000512660.1:p.Met2498Val | |
| ENST00000696490.1:c.7442+2218A>G | ENSP00000512661.1:n.7442+2218A>G | |
| ENST00000282041.11:c.7495A>G MANE Select | ENSP00000282041.4:p.Met2499Val | |
| ENST00000282041.9:c.7495A>G | ENSP00000282041.4:p.Met2499Val | |
| ENST00000587262.1:n.355A>G | ||
| ENST00000590854.5:c.1272A>G | ||
| NM_020964.2:c.7495A>G | NP_066015.2:p.Met2499Val | |
| XM_011526120.1:c.7522A>G | XP_011524422.1:p.Met2508Val | |
| XM_011526121.1:c.7519A>G | XP_011524423.1:p.Met2507Val | |
| XM_011526122.1:c.7495A>G | XP_011524424.1:p.Met2499Val | |
| XM_011526123.1:c.7522A>G | XP_011524425.1:p.Met2508Val | |
| XM_011526124.1:c.7522A>G | XP_011524426.1:p.Met2508Val | |
| XM_011526125.1:c.7381A>G | XP_011524427.1:p.Met2461Val | |
| XM_011526126.1:c.6457A>G | XP_011524428.1:p.Met2153Val | |
| NM_020964.3:c.7495A>G MANE Select | NP_066015.2:p.Met2499Val | |
| XM_017025889.1:c.7492A>G | XP_016881378.1:p.Met2498Val | |
| XM_017025890.2:c.7495A>G | XP_016881379.1:p.Met2499Val | |
| XM_017025891.1:c.7354A>G | XP_016881380.1:p.Met2452Val | |
| XM_017025892.1:c.6430A>G | XP_016881381.1:p.Met2144Val | |
| XM_017025893.1:c.4120A>G | XP_016881382.1:p.Met1374Val | |
| XR_001753256.1:n.7470A>G | ||
| XR_001753257.1:n.7518A>G |