Linked Data
ClinVar Variation Id:
402469
dbSNP Id:
rs550371466
ExAC:
1:201010662 G / A
gnomAD v2:
1-201010662-G-A
gnomAD v3:
1-201041534-G-A
gnomAD v4:
1-201041534-G-A
COSMIC:
COSM3385601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201041534G>A , CM000663.2:g.201041534G>A | GRCh38 |
| NC_000001.10:g.201010662G>A , CM000663.1:g.201010662G>A | GRCh37 |
| NC_000001.9:g.199277285G>A | NCBI36 |
| NG_009816.1:g.76033C>T | |
| NG_009816.2:g.76033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.5104C>T MANE Select | ENSP00000355192.3:p.Arg1702Ter | |
| ENST00000679417.1:c.*4267C>T | ENSP00000506706.1:n.*4267C>T | |
| ENST00000680059.1:c.*2622C>T | ENSP00000504944.1:n.*2622C>T | |
| ENST00000681078.1:c.*879C>T | ENSP00000506645.1:n.*879C>T | |
| ENST00000681190.1:c.*1286C>T | ENSP00000506428.1:n.*1286C>T | |
| ENST00000681874.1:c.5044C>T | ENSP00000505162.1:p.Arg1682Ter | |
| ENST00000362061.3:c.5104C>T | ENSP00000355192.3:p.Arg1702Ter | |
| ENST00000367338.7:c.5047C>T | ENSP00000356307.3:p.Arg1683Ter | |
| NM_000069.2:c.5104C>T | NP_000060.2:p.Arg1702Ter | |
| XM_005245478.2:c.5047C>T | XP_005245535.1:p.Arg1683Ter | |
| XR_241170.3:n.1465-321G>A | ||
| XR_922405.1:n.2003-321G>A | ||
| XR_922406.1:n.2281-321G>A | ||
| XR_922407.1:n.2191-321G>A | ||
| XR_922408.1:n.1369-321G>A | ||
| XR_922409.1:n.1984-321G>A | ||
| XR_922410.1:n.1391-321G>A | ||
| XR_922411.1:n.1983-321G>A | ||
| XR_922412.1:n.2197-321G>A | ||
| XR_922413.1:n.2093-321G>A | ||
| XR_922414.1:n.1300-321G>A | ||
| XR_922415.1:n.1869-321G>A | ||
| XR_922416.1:n.1309-321G>A | ||
| XR_922417.1:n.1887-321G>A | ||
| XR_922418.1:n.1821-321G>A | ||
| XR_922419.1:n.1215-321G>A | ||
| XR_922420.1:n.1687-321G>A | ||
| XM_005245478.3:c.5047C>T | XP_005245535.1:p.Arg1683Ter | |
| XR_001738364.1:n.1652-321G>A | ||
| XR_001738365.1:n.1562-321G>A | ||
| XR_001738366.1:n.1355-321G>A | ||
| XR_001738367.1:n.1568-321G>A | ||
| XR_001738368.1:n.1464-321G>A | ||
| XR_001738369.1:n.1240-321G>A | ||
| XR_001738370.1:n.1192-321G>A | ||
| XR_001738371.1:n.586-321G>A | ||
| XR_001738372.1:n.1058-321G>A | ||
| XR_922405.3:n.2113-321G>A | ||
| XR_922407.3:n.2301-321G>A | ||
| XR_922408.2:n.1374-321G>A | ||
| XR_922410.2:n.1383-321G>A | ||
| XR_922414.2:n.1292-321G>A | ||
| XR_922416.2:n.1301-321G>A | ||
| XR_922417.3:n.1997-321G>A | ||
| NM_000069.3:c.5104C>T MANE Select | NP_000060.2:p.Arg1702Ter |