Linked Data
ClinVar Variation Id:
40682
ClinVar RCV Id:
RCV000159176
RCV000208093
RCV000528274
RCV000626887
RCV001507015
RCV001813288
RCV002399361
RCV003390718
RCV003450660
dbSNP Id:
rs397517154
ERepo:
CA261728/MONDO:0018997/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022773C>G , CM000664.2:g.39022773C>G | GRCh38 |
| NC_000002.11:g.39249914C>G , CM000664.1:g.39249914C>G | GRCh37 |
| NC_000002.10:g.39103418C>G | NCBI36 |
| NG_007530.1:g.102691G>C , LRG_754:g.102691G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1535G>C | ||
| ENST00000685279.1:c.422G>C | ENSP00000509424.1:p.Arg141Thr | |
| ENST00000688043.1:n.1876G>C | ||
| ENST00000689668.1:n.1662G>C | ||
| ENST00000690876.1:c.1544G>C | ENSP00000508955.1:p.Arg515Thr | |
| ENST00000691229.1:c.1544G>C | ENSP00000510437.1:p.Arg515Thr | |
| ENST00000692089.1:c.1544G>C | ENSP00000508626.1:p.Arg515Thr | |
| ENST00000692620.1:c.422G>C | ENSP00000509311.1:p.Arg141Thr | |
| ENST00000402219.8:c.1655G>C MANE Select | ENSP00000384675.2:p.Arg552Thr | |
| ENST00000395038.6:c.1655G>C | ENSP00000378479.2:p.Arg552Thr | |
| ENST00000402219.6:c.1655G>C | ENSP00000384675.2:p.Arg552Thr | |
| ENST00000426016.5:c.1655G>C | ENSP00000387784.1:p.Arg552Thr | |
| NM_005633.3:c.1655G>C , LRG_754t1:c.1655G>C | NP_005624.2:p.Arg552Thr | |
| XM_005264515.3:c.1655G>C | XP_005264572.1:p.Arg552Thr | |
| XM_011533060.1:c.1748G>C | XP_011531362.1:p.Arg583Thr | |
| XM_011533061.1:c.1748G>C | XP_011531363.1:p.Arg583Thr | |
| XM_011533062.1:c.1634G>C | XP_011531364.1:p.Arg545Thr | |
| XM_011533063.1:c.1631G>C | XP_011531365.1:p.Arg544Thr | |
| XM_011533064.1:c.1484G>C | XP_011531366.1:p.Arg495Thr | |
| XM_011533065.1:c.1748G>C | XP_011531367.1:p.Arg583Thr | |
| XM_011533066.1:c.590G>C | XP_011531368.1:p.Arg197Thr | |
| XM_005264515.4:c.1655G>C | XP_005264572.1:p.Arg552Thr | |
| XM_011533062.2:c.1634G>C | XP_011531364.1:p.Arg545Thr | |
| XM_011533064.2:c.1484G>C | XP_011531366.1:p.Arg495Thr | |
| NM_001382394.1:c.1634G>C | NP_001369323.1:p.Arg545Thr | |
| NM_001382395.1:c.1655G>C | NP_001369324.1:p.Arg552Thr | |
| NM_005633.4:c.1655G>C MANE Select | NP_005624.2:p.Arg552Thr |