Linked Data
ClinVar Variation Id:
101039
dbSNP Id:
rs587777181
gnomAD v4:
19-7556502-C-T
PubMed:
PMID:24355708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7556502C>T , CM000681.2:g.7556502C>T | GRCh38 |
| NC_000019.9:g.7621388C>T , CM000681.1:g.7621388C>T | GRCh37 |
| NC_000019.8:g.7527388C>T | NCBI36 |
| NG_013374.1:g.27351C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3143C>T MANE Select | ENSP00000473211.1:p.Thr1048Ile | |
| ENST00000646984.1:c.314C>T | ENSP00000496219.1:p.Thr105Ile | |
| ENST00000221249.10:c.3029C>T | ENSP00000221249.5:p.Thr1010Ile | |
| ENST00000414982.7:c.3173C>T | ENSP00000407509.2:p.Thr1058Ile | |
| ENST00000450331.7:c.3029C>T | ENSP00000394348.2:p.Thr1010Ile | |
| ENST00000545201.6:c.2948C>T | ENSP00000443323.1:p.Thr983Ile | |
| ENST00000600737.5:c.3143C>T | ENSP00000473211.1:p.Thr1048Ile | |
| NM_001166111.1:c.3173C>T | NP_001159583.1:p.Thr1058Ile | |
| NM_001166112.1:c.2948C>T | NP_001159584.1:p.Thr983Ile | |
| NM_001166113.1:c.3029C>T | NP_001159585.1:p.Thr1010Ile | |
| NM_001166114.1:c.3143C>T | NP_001159586.1:p.Thr1048Ile | |
| NM_006702.4:c.3029C>T | NP_006693.3:p.Thr1010Ile | |
| NM_001166111.2:c.3173C>T | NP_001159583.1:p.Thr1058Ile | |
| NM_001166114.2:c.3143C>T MANE Select | NP_001159586.1:p.Thr1048Ile | |
| NM_006702.5:c.3029C>T | NP_006693.3:p.Thr1010Ile | |
| NM_001166112.2:c.2948C>T | NP_001159584.1:p.Thr983Ile |