Linked Data
ClinVar Variation Id:
466261
dbSNP Id:
rs200926094
ExAC:
18:43450596 G / A
gnomAD v2:
18-43450596-G-A
gnomAD v3:
18-45870631-G-A
gnomAD v4:
18-45870631-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45870631G>A , CM000680.2:g.45870631G>A | GRCh38 |
| NC_000018.9:g.43450596G>A , CM000680.1:g.43450596G>A | GRCh37 |
| NC_000018.8:g.41704594G>A | NCBI36 |
| NG_042838.1:g.101709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.4422C>T | ||
| ENST00000587884.2:c.6287C>T | ENSP00000466990.2:n.6287C>T | |
| ENST00000587973.2:n.2026C>T | ||
| ENST00000590884.6:c.5887-2883C>T | ENSP00000466403.2:n.5887-2883C>T | |
| ENST00000592272.6:c.6054C>T | ENSP00000467464.2:n.6054C>T | |
| ENST00000696481.1:n.2793C>T | ||
| ENST00000696482.1:c.5901C>T | ENSP00000512656.1:n.5901C>T | |
| ENST00000696483.1:c.6161C>T | ENSP00000512657.1:p.Thr2054Met | |
| ENST00000696484.1:c.6161C>T | ENSP00000512658.1:p.Thr2054Met | |
| ENST00000696485.1:c.*753C>T | ENSP00000512659.1:n.*753C>T | |
| ENST00000696489.1:c.6158C>T | ENSP00000512660.1:p.Thr2053Met | |
| ENST00000696490.1:c.6161C>T | ENSP00000512661.1:p.Thr2054Met | |
| ENST00000282041.11:c.6161C>T MANE Select | ENSP00000282041.4:p.Thr2054Met | |
| ENST00000282041.9:c.6161C>T | ENSP00000282041.4:p.Thr2054Met | |
| ENST00000585906.5:n.2940C>T | ||
| ENST00000587884.1:c.*1901C>T | ENSP00000466990.1:n.*1901C>T | |
| ENST00000590884.5:c.*538-2883C>T | ENSP00000466403.1:n.*538-2883C>T | |
| ENST00000592272.5:c.*108C>T | ENSP00000467464.1:n.*108C>T | |
| NM_020964.2:c.6161C>T | NP_066015.2:p.Thr2054Met | |
| XM_011526120.1:c.6188C>T | XP_011524422.1:p.Thr2063Met | |
| XM_011526121.1:c.6185C>T | XP_011524423.1:p.Thr2062Met | |
| XM_011526122.1:c.6161C>T | XP_011524424.1:p.Thr2054Met | |
| XM_011526123.1:c.6188C>T | XP_011524425.1:p.Thr2063Met | |
| XM_011526124.1:c.6188C>T | XP_011524426.1:p.Thr2063Met | |
| XM_011526125.1:c.6047C>T | XP_011524427.1:p.Thr2016Met | |
| XM_011526126.1:c.5123C>T | XP_011524428.1:p.Thr1708Met | |
| XR_935244.1:n.6154C>T | ||
| NM_020964.3:c.6161C>T MANE Select | NP_066015.2:p.Thr2054Met | |
| XM_017025889.1:c.6158C>T | XP_016881378.1:p.Thr2053Met | |
| XM_017025890.2:c.6161C>T | XP_016881379.1:p.Thr2054Met | |
| XM_017025891.1:c.6020C>T | XP_016881380.1:p.Thr2007Met | |
| XM_017025892.1:c.5096C>T | XP_016881381.1:p.Thr1699Met | |
| XM_017025893.1:c.2786C>T | XP_016881382.1:p.Thr929Met | |
| XR_001753256.1:n.6136C>T | ||
| XR_001753257.1:n.6184C>T |