Linked Data
ClinVar Variation Id:
208722
ClinVar RCV Id:
RCV000190738
RCV000210259
RCV000208571
RCV000225179
RCV000225295
RCV000418135
RCV000755055
RCV001007652
RCV001195548
RCV001255414
RCV001264641
RCV001544504
RCV001795309
RCV002273978
dbSNP Id:
rs752746786
ExAC:
1:1737942 A / G
gnomAD v2:
1-1737942-A-G
gnomAD v3:
1-1806503-A-G
gnomAD v4:
1-1806503-A-G
COSMIC:
COSM1290046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1806503A>G , CM000663.2:g.1806503A>G | GRCh38 |
| NC_000001.10:g.1737942A>G , CM000663.1:g.1737942A>G | GRCh37 |
| NC_000001.9:g.1727802A>G | NCBI36 |
| NG_047052.1:g.89615T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439272.7:c.200T>C | ENSP00000399741.3:p.Ile67Thr | |
| ENST00000615252.5:c.-62T>C | ENSP00000483532.1:n.-62T>C | |
| ENST00000703692.1:c.239T>C | ENSP00000515427.1:p.Ile80Thr | |
| ENST00000703693.1:c.239T>C | ENSP00000515428.1:p.Ile80Thr | |
| ENST00000703694.1:c.239T>C | ENSP00000515429.1:p.Ile80Thr | |
| ENST00000703695.1:c.239T>C | ENSP00000515430.1:p.Ile80Thr | |
| ENST00000703696.1:c.239T>C | ENSP00000515431.1:p.Ile80Thr | |
| ENST00000703697.1:c.239T>C | ENSP00000515432.1:p.Ile80Thr | |
| ENST00000703699.1:c.239T>C | ENSP00000515433.1:p.Ile80Thr | |
| ENST00000703700.1:c.239T>C | ENSP00000515434.1:p.Ile80Thr | |
| ENST00000703701.1:c.239T>C | ENSP00000515435.1:p.Ile80Thr | |
| ENST00000703702.1:c.239T>C | ENSP00000515436.1:p.Ile80Thr | |
| ENST00000703703.1:c.239T>C | ENSP00000515437.1:p.Ile80Thr | |
| ENST00000703704.1:c.239T>C | ENSP00000515438.1:p.Ile80Thr | |
| ENST00000703705.1:c.107T>C | ENSP00000515439.1:p.Ile36Thr | |
| ENST00000703706.1:c.239T>C | ENSP00000515440.1:p.Ile80Thr | |
| ENST00000703707.1:c.200T>C | ENSP00000515441.1:p.Ile67Thr | |
| ENST00000703708.1:c.239T>C | ENSP00000515442.1:p.Ile80Thr | |
| ENST00000703709.1:c.239T>C | ENSP00000515443.1:p.Ile80Thr | |
| ENST00000703710.1:c.239T>C | ENSP00000515444.1:p.Ile80Thr | |
| ENST00000703711.1:c.239T>C | ENSP00000515445.1:p.Ile80Thr | |
| ENST00000378609.9:c.239T>C MANE Select | ENSP00000367872.3:p.Ile80Thr | |
| ENST00000378609.8:c.239T>C | ENSP00000367872.3:p.Ile80Thr | |
| ENST00000434686.6:c.239T>C | ENSP00000392765.2:p.Ile80Thr | |
| ENST00000437146.1:c.239T>C | ENSP00000416651.1:p.Ile80Thr | |
| ENST00000439272.6:c.200T>C | ENSP00000399741.2:p.Ile67Thr | |
| ENST00000471354.1:n.843T>C | ||
| ENST00000610897.4:c.239T>C | ENSP00000481878.1:p.Ile80Thr | |
| ENST00000615252.4:c.-62T>C | ENSP00000483532.1:n.-62T>C | |
| NM_001282538.1:c.-62T>C | NP_001269467.1:n.-62T>C | |
| NM_001282539.1:c.239T>C | NP_001269468.1:p.Ile80Thr | |
| NM_002074.4:c.239T>C | NP_002065.1:p.Ile80Thr | |
| XM_017001059.2:c.239T>C | XP_016856548.1:p.Ile80Thr | |
| XM_017001060.2:c.239T>C | XP_016856549.1:p.Ile80Thr | |
| XM_017001061.2:c.239T>C | XP_016856550.1:p.Ile80Thr | |
| XM_024446495.1:c.239T>C | XP_024302263.1:p.Ile80Thr | |
| NM_002074.5:c.239T>C MANE Select | NP_002065.1:p.Ile80Thr | |
| NM_001282538.2:c.-62T>C | NP_001269467.1:n.-62T>C | |
| NM_001282539.2:c.239T>C | NP_001269468.1:p.Ile80Thr |