Linked Data
ClinVar Variation Id:
1120758
ClinVar RCV Id:
RCV001450831
dbSNP Id:
rs1176113198
gnomAD v2:
12-132425892-C-T
gnomAD v4:
12-131941347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941347C>T , CM000674.2:g.131941347C>T | GRCh38 |
| NC_000012.11:g.132425892C>T , CM000674.1:g.132425892C>T | GRCh37 |
| NC_000012.10:g.130991845C>T | NCBI36 |
| NG_013039.1:g.17148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.600C>T MANE Select | ENSP00000365837.3:p.Thr200= | |
| ENST00000322060.9:c.516C>T | ENSP00000324726.5:p.Thr172= | |
| ENST00000376649.7:c.600C>T | ENSP00000365837.3:p.Thr200= | |
| ENST00000443358.6:c.516C>T | ENSP00000392451.2:p.Thr172= | |
| ENST00000535067.5:c.358-2192C>T | ENSP00000443969.1:n.358-2192C>T | |
| ENST00000537484.1:c.525C>T | ENSP00000440179.1:p.Thr175= | |
| ENST00000542167.2:c.441C>T | ENSP00000438948.1:p.Thr147= | |
| ENST00000543754.1:n.421C>T | ||
| NM_001002019.2:c.516C>T | NP_001002019.1:p.Thr172= | |
| NM_001002020.2:c.516C>T | NP_001002020.1:p.Thr172= | |
| NM_025215.5:c.600C>T | NP_079491.2:p.Thr200= | |
| XM_011538768.1:c.201C>T | XP_011537070.1:p.Thr67= | |
| XM_011538768.3:c.201C>T | XP_011537070.1:p.Thr67= | |
| XR_001748872.1:n.1055C>T | ||
| NM_001002019.3:c.516C>T | NP_001002019.1:p.Thr172= | |
| NM_001002020.3:c.516C>T | NP_001002020.1:p.Thr172= | |
| NM_025215.6:c.600C>T MANE Select | NP_079491.2:p.Thr200= |