Linked Data
ClinVar Variation Id:
254847
dbSNP Id:
rs12139527
ExAC:
1:201009182 A / G
gnomAD v2:
1-201009182-A-G
gnomAD v3:
1-201040054-A-G
gnomAD v4:
1-201040054-A-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201040054A>G , CM000663.2:g.201040054A>G | GRCh38 |
| NC_000001.10:g.201009182A>G , CM000663.1:g.201009182A>G | GRCh37 |
| NC_000001.9:g.199275805A>G | NCBI36 |
| NG_009816.1:g.77513T>C | |
| NG_009816.2:g.77513T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.5399T>C MANE Select | ENSP00000355192.3:p.Leu1800Ser | |
| ENST00000679417.1:c.*4562T>C | ENSP00000506706.1:n.*4562T>C | |
| ENST00000680059.1:c.*2917T>C | ENSP00000504944.1:n.*2917T>C | |
| ENST00000681078.1:c.*1174T>C | ENSP00000506645.1:n.*1174T>C | |
| ENST00000681190.1:c.*1581T>C | ENSP00000506428.1:n.*1581T>C | |
| ENST00000681874.1:c.5339T>C | ENSP00000505162.1:p.Leu1780Ser | |
| ENST00000362061.3:c.5399T>C | ENSP00000355192.3:p.Leu1800Ser | |
| ENST00000367338.7:c.5342T>C | ENSP00000356307.3:p.Leu1781Ser | |
| NM_000069.2:c.5399T>C | NP_000060.2:p.Leu1800Ser | |
| XM_005245478.2:c.5342T>C | XP_005245535.1:p.Leu1781Ser | |
| XR_241170.3:n.1465-1801A>G | ||
| XR_922405.1:n.2003-1801A>G | ||
| XR_922406.1:n.2281-1801A>G | ||
| XR_922407.1:n.2191-1801A>G | ||
| XR_922408.1:n.1369-1801A>G | ||
| XR_922409.1:n.1984-1801A>G | ||
| XR_922410.1:n.1391-1801A>G | ||
| XR_922411.1:n.1983-1801A>G | ||
| XR_922412.1:n.2197-1801A>G | ||
| XR_922413.1:n.2093-1801A>G | ||
| XR_922414.1:n.1300-1801A>G | ||
| XR_922415.1:n.1869-1801A>G | ||
| XR_922416.1:n.1309-1801A>G | ||
| XR_922417.1:n.1887-1801A>G | ||
| XR_922418.1:n.1821-1801A>G | ||
| XR_922419.1:n.1215-1801A>G | ||
| XR_922420.1:n.1687-1801A>G | ||
| XM_005245478.3:c.5342T>C | XP_005245535.1:p.Leu1781Ser | |
| XR_001738364.1:n.1652-1801A>G | ||
| XR_001738365.1:n.1562-1801A>G | ||
| XR_001738366.1:n.1355-1801A>G | ||
| XR_001738367.1:n.1568-1801A>G | ||
| XR_001738368.1:n.1464-1801A>G | ||
| XR_001738369.1:n.1240-1801A>G | ||
| XR_001738370.1:n.1192-1801A>G | ||
| XR_001738371.1:n.586-1801A>G | ||
| XR_001738372.1:n.1058-1801A>G | ||
| XR_922405.3:n.2113-1801A>G | ||
| XR_922407.3:n.2301-1801A>G | ||
| XR_922408.2:n.1374-1801A>G | ||
| XR_922410.2:n.1383-1801A>G | ||
| XR_922414.2:n.1292-1801A>G | ||
| XR_922416.2:n.1301-1801A>G | ||
| XR_922417.3:n.1997-1801A>G | ||
| NM_000069.3:c.5399T>C MANE Select | NP_000060.2:p.Leu1800Ser |