Linked Data
ClinVar Variation Id:
474000
dbSNP Id:
rs200434921
ExAC:
1:201009430 G / T
gnomAD v2:
1-201009430-G-T
gnomAD v3:
1-201040302-G-T
gnomAD v4:
1-201040302-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201040302G>T , CM000663.2:g.201040302G>T | GRCh38 |
| NC_000001.10:g.201009430G>T , CM000663.1:g.201009430G>T | GRCh37 |
| NC_000001.9:g.199276053G>T | NCBI36 |
| NG_009816.1:g.77265C>A | |
| NG_009816.2:g.77265C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.5299C>A MANE Select | ENSP00000355192.3:p.Pro1767Thr | |
| ENST00000679417.1:c.*4462C>A | ENSP00000506706.1:n.*4462C>A | |
| ENST00000680059.1:c.*2817C>A | ENSP00000504944.1:n.*2817C>A | |
| ENST00000681078.1:c.*1074C>A | ENSP00000506645.1:n.*1074C>A | |
| ENST00000681190.1:c.*1481C>A | ENSP00000506428.1:n.*1481C>A | |
| ENST00000681874.1:c.5239C>A | ENSP00000505162.1:p.Pro1747Thr | |
| ENST00000362061.3:c.5299C>A | ENSP00000355192.3:p.Pro1767Thr | |
| ENST00000367338.7:c.5242C>A | ENSP00000356307.3:p.Pro1748Thr | |
| NM_000069.2:c.5299C>A | NP_000060.2:p.Pro1767Thr | |
| XM_005245478.2:c.5242C>A | XP_005245535.1:p.Pro1748Thr | |
| XR_241170.3:n.1465-1553G>T | ||
| XR_922405.1:n.2003-1553G>T | ||
| XR_922406.1:n.2281-1553G>T | ||
| XR_922407.1:n.2191-1553G>T | ||
| XR_922408.1:n.1369-1553G>T | ||
| XR_922409.1:n.1984-1553G>T | ||
| XR_922410.1:n.1391-1553G>T | ||
| XR_922411.1:n.1983-1553G>T | ||
| XR_922412.1:n.2197-1553G>T | ||
| XR_922413.1:n.2093-1553G>T | ||
| XR_922414.1:n.1300-1553G>T | ||
| XR_922415.1:n.1869-1553G>T | ||
| XR_922416.1:n.1309-1553G>T | ||
| XR_922417.1:n.1887-1553G>T | ||
| XR_922418.1:n.1821-1553G>T | ||
| XR_922419.1:n.1215-1553G>T | ||
| XR_922420.1:n.1687-1553G>T | ||
| XM_005245478.3:c.5242C>A | XP_005245535.1:p.Pro1748Thr | |
| XR_001738364.1:n.1652-1553G>T | ||
| XR_001738365.1:n.1562-1553G>T | ||
| XR_001738366.1:n.1355-1553G>T | ||
| XR_001738367.1:n.1568-1553G>T | ||
| XR_001738368.1:n.1464-1553G>T | ||
| XR_001738369.1:n.1240-1553G>T | ||
| XR_001738370.1:n.1192-1553G>T | ||
| XR_001738371.1:n.586-1553G>T | ||
| XR_001738372.1:n.1058-1553G>T | ||
| XR_922405.3:n.2113-1553G>T | ||
| XR_922407.3:n.2301-1553G>T | ||
| XR_922408.2:n.1374-1553G>T | ||
| XR_922410.2:n.1383-1553G>T | ||
| XR_922414.2:n.1292-1553G>T | ||
| XR_922416.2:n.1301-1553G>T | ||
| XR_922417.3:n.1997-1553G>T | ||
| NM_000069.3:c.5299C>A MANE Select | NP_000060.2:p.Pro1767Thr |