Linked Data
ClinVar Variation Id:
1773019
ClinVar RCV Id:
RCV002394675
dbSNP Id:
rs758486433
ExAC:
12:133249769 A / G
gnomAD v2:
12-133249769-A-G
gnomAD v4:
12-132673183-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673183A>G , CM000674.2:g.132673183A>G | GRCh38 |
| NC_000012.11:g.133249769A>G , CM000674.1:g.133249769A>G | GRCh37 |
| NC_000012.10:g.131759842A>G | NCBI36 |
| NG_033840.1:g.19342T>C , LRG_789:g.19342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.162T>C | ||
| ENST00000545015.2:n.1481T>C | ||
| ENST00000699982.1:c.1308T>C | ||
| ENST00000699983.1:c.1308T>C | ||
| ENST00000699984.1:c.1308T>C | ||
| ENST00000320574.10:c.1454T>C MANE Select | ENSP00000322570.5:p.Ile485Thr | |
| ENST00000672742.1:c.*956T>C | ENSP00000500279.1:n.*956T>C | |
| ENST00000320574.9:c.1454T>C | ENSP00000322570.5:p.Ile485Thr | |
| ENST00000535270.5:c.1373T>C | ENSP00000445753.1:p.Ile458Thr | |
| ENST00000535934.2:n.1329T>C | ||
| ENST00000537064.5:c.*501T>C | ENSP00000442578.1:n.*501T>C | |
| ENST00000539215.5:n.162T>C | ||
| ENST00000545015.1:n.51T>C | ||
| NM_006231.3:c.1454T>C , LRG_789t1:c.1454T>C | NP_006222.2:p.Ile485Thr | |
| XM_011534795.1:c.1454T>C | XP_011533097.1:p.Ile485Thr | |
| XM_011534796.1:c.1325T>C | XP_011533098.1:p.Ile442Thr | |
| XM_011534797.1:c.533T>C | XP_011533099.1:p.Ile178Thr | |
| XM_011534798.1:c.116T>C | XP_011533100.1:p.Ile39Thr | |
| XM_011534799.1:c.1454T>C | XP_011533101.1:p.Ile485Thr | |
| XM_011534800.1:c.1454T>C | XP_011533102.1:p.Ile485Thr | |
| XM_011534801.1:c.1454T>C | XP_011533103.1:p.Ile485Thr | |
| XR_941395.1:n.1663T>C | ||
| XM_011534795.3:c.1454T>C | XP_011533097.1:p.Ile485Thr | |
| XM_011534797.3:c.533T>C | XP_011533099.1:p.Ile178Thr | |
| XM_011534799.2:c.1454T>C | XP_011533101.1:p.Ile485Thr | |
| XR_002957338.1:n.1658T>C | ||
| XR_002957339.1:n.1658T>C | ||
| XR_941395.2:n.1658T>C | ||
| NM_006231.4:c.1454T>C MANE Select | NP_006222.2:p.Ile485Thr |