Linked Data
ClinVar Variation Id:
1742817
ClinVar RCV Id:
RCV002330615
dbSNP Id:
rs753972253
ExAC:
12:25362822 T / C
gnomAD v2:
12-25362822-T-C
gnomAD v4:
12-25209888-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209888T>C , CM000674.2:g.25209888T>C | GRCh38 |
| NC_000012.11:g.25362822T>C , CM000674.1:g.25362822T>C | GRCh37 |
| NC_000012.10:g.25254089T>C | NCBI36 |
| NG_007524.1:g.46033A>G | |
| NG_007524.2:g.46116A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.135A>G | ENSP00000452512.1:p.Thr45= | |
| ENST00000685328.1:c.474A>G | ENSP00000508921.1:p.Thr158= | |
| ENST00000686877.1:c.*445A>G | ENSP00000510431.1:n.*445A>G | |
| ENST00000687356.1:c.*172A>G | ENSP00000510511.1:n.*172A>G | |
| ENST00000688228.1:n.948A>G | ||
| ENST00000688940.1:c.474A>G | ENSP00000509238.1:p.Thr158= | |
| ENST00000690406.1:c.277A>G | ||
| ENST00000690804.1:c.*435A>G | ENSP00000508568.1:n.*435A>G | |
| ENST00000692768.1:c.276A>G | ENSP00000510254.1:p.Thr92= | |
| ENST00000693229.1:c.399A>G | ENSP00000509223.1:p.Thr133= | |
| ENST00000256078.10:c.*28A>G MANE Plus Clinical | ENSP00000256078.5:n.*28A>G | |
| ENST00000311936.8:c.474A>G MANE Select | ENSP00000308495.3:p.Thr158= | |
| ENST00000256078.8:c.*28A>G | ENSP00000256078.4:n.*28A>G | |
| ENST00000311936.7:c.474A>G | ENSP00000308495.3:p.Thr158= | |
| ENST00000557334.5:c.135A>G | ENSP00000452512.1:p.Thr45= | |
| NM_004985.4:c.474A>G | NP_004976.2:p.Thr158= | |
| NM_033360.3:c.*28A>G | NP_203524.1:n.*28A>G | |
| XM_006719069.2:c.*28A>G | XP_006719132.1:n.*28A>G | |
| XM_011520653.1:c.474A>G | XP_011518955.1:p.Thr158= | |
| XM_006719069.4:c.*28A>G | XP_006719132.1:n.*28A>G | |
| XM_011520653.3:c.474A>G | XP_011518955.1:p.Thr158= | |
| NM_001369786.1:c.*28A>G | NP_001356715.1:n.*28A>G | |
| NM_001369787.1:c.474A>G | NP_001356716.1:p.Thr158= | |
| NM_004985.5:c.474A>G MANE Select | NP_004976.2:p.Thr158= | |
| NM_033360.4:c.*28A>G MANE Plus Clinical | NP_203524.1:n.*28A>G |