Linked Data
ClinVar Variation Id:
541067
dbSNP Id:
rs374660431
gnomAD v2:
1-201009491-C-T
gnomAD v3:
1-201040363-C-T
gnomAD v4:
1-201040363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201040363C>T , CM000663.2:g.201040363C>T | GRCh38 |
| NC_000001.10:g.201009491C>T , CM000663.1:g.201009491C>T | GRCh37 |
| NC_000001.9:g.199276114C>T | NCBI36 |
| NG_009816.1:g.77204G>A | |
| NG_009816.2:g.77204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.5238G>A MANE Select | ENSP00000355192.3:p.Val1746= | |
| ENST00000679417.1:c.*4401G>A | ENSP00000506706.1:n.*4401G>A | |
| ENST00000680059.1:c.*2756G>A | ENSP00000504944.1:n.*2756G>A | |
| ENST00000681078.1:c.*1013G>A | ENSP00000506645.1:n.*1013G>A | |
| ENST00000681190.1:c.*1420G>A | ENSP00000506428.1:n.*1420G>A | |
| ENST00000681874.1:c.5178G>A | ENSP00000505162.1:p.Val1726= | |
| ENST00000362061.3:c.5238G>A | ENSP00000355192.3:p.Val1746= | |
| ENST00000367338.7:c.5181G>A | ENSP00000356307.3:p.Val1727= | |
| NM_000069.2:c.5238G>A | NP_000060.2:p.Val1746= | |
| XM_005245478.2:c.5181G>A | XP_005245535.1:p.Val1727= | |
| XR_241170.3:n.1465-1492C>T | ||
| XR_922405.1:n.2003-1492C>T | ||
| XR_922406.1:n.2281-1492C>T | ||
| XR_922407.1:n.2191-1492C>T | ||
| XR_922408.1:n.1369-1492C>T | ||
| XR_922409.1:n.1984-1492C>T | ||
| XR_922410.1:n.1391-1492C>T | ||
| XR_922411.1:n.1983-1492C>T | ||
| XR_922412.1:n.2197-1492C>T | ||
| XR_922413.1:n.2093-1492C>T | ||
| XR_922414.1:n.1300-1492C>T | ||
| XR_922415.1:n.1869-1492C>T | ||
| XR_922416.1:n.1309-1492C>T | ||
| XR_922417.1:n.1887-1492C>T | ||
| XR_922418.1:n.1821-1492C>T | ||
| XR_922419.1:n.1215-1492C>T | ||
| XR_922420.1:n.1687-1492C>T | ||
| XM_005245478.3:c.5181G>A | XP_005245535.1:p.Val1727= | |
| XR_001738364.1:n.1652-1492C>T | ||
| XR_001738365.1:n.1562-1492C>T | ||
| XR_001738366.1:n.1355-1492C>T | ||
| XR_001738367.1:n.1568-1492C>T | ||
| XR_001738368.1:n.1464-1492C>T | ||
| XR_001738369.1:n.1240-1492C>T | ||
| XR_001738370.1:n.1192-1492C>T | ||
| XR_001738371.1:n.586-1492C>T | ||
| XR_001738372.1:n.1058-1492C>T | ||
| XR_922405.3:n.2113-1492C>T | ||
| XR_922407.3:n.2301-1492C>T | ||
| XR_922408.2:n.1374-1492C>T | ||
| XR_922410.2:n.1383-1492C>T | ||
| XR_922414.2:n.1292-1492C>T | ||
| XR_922416.2:n.1301-1492C>T | ||
| XR_922417.3:n.1997-1492C>T | ||
| NM_000069.3:c.5238G>A MANE Select | NP_000060.2:p.Val1746= |