Linked Data
ClinVar Variation Id:
537328
ClinVar RCV Id:
RCV000646150
dbSNP Id:
rs1553159049
gnomAD v4:
1-11016868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11016868C>T , CM000663.2:g.11016868C>T | GRCh38 |
| NC_000001.10:g.11076925C>T , CM000663.1:g.11076925C>T | GRCh37 |
| NC_000001.9:g.10999512C>T | NCBI36 |
| NG_008734.1:g.9247C>T , LRG_659:g.9247C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240185.8:c.263C>T MANE Select | ENSP00000240185.4:p.Thr88Ile | |
| ENST00000639083.1:c.263C>T | ENSP00000491203.1:p.Thr88Ile | |
| ENST00000639599.1:c.263C>T | ENSP00000492196.1:p.Thr88Ile | |
| ENST00000649624.1:c.263C>T | ENSP00000497327.1:p.Thr88Ile | |
| ENST00000240185.7:c.263C>T | ENSP00000240185.3:p.Thr88Ile | |
| ENST00000315091.7:c.263C>T | ENSP00000313129.3:p.Thr88Ile | |
| ENST00000439080.6:c.239-1865C>T | ENSP00000404666.3:n.239-1865C>T | |
| ENST00000472476.5:c.*152C>T | ENSP00000465080.1:n.*152C>T | |
| ENST00000473118.5:c.263C>T | ENSP00000465240.1:p.Thr88Ile | |
| ENST00000473869.5:c.263C>T | ENSP00000432132.1:p.Thr88Ile | |
| ENST00000476201.5:c.386C>T | ENSP00000466842.2:p.Thr129Ile | |
| ENST00000613864.4:n.365C>T | ||
| ENST00000614757.4:c.263C>T | ENSP00000481867.1:p.Thr88Ile | |
| ENST00000616545.4:c.263C>T | ENSP00000484722.1:p.Thr88Ile | |
| ENST00000617172.4:c.4C>T | ||
| ENST00000621715.4:c.263C>T | ENSP00000480690.1:p.Thr88Ile | |
| ENST00000621790.4:c.263C>T | ENSP00000482191.1:p.Thr88Ile | |
| ENST00000622057.4:c.10C>T | ||
| ENST00000629725.2:c.263C>T | ENSP00000486989.1:p.Thr88Ile | |
| NM_007375.3:c.263C>T , LRG_659t1:c.263C>T | NP_031401.1:p.Thr88Ile | |
| XR_946596.1:n.385C>T | ||
| XR_946597.1:n.385C>T | ||
| XM_017000863.2:c.263C>T | XP_016856352.1:p.Thr88Ile | |
| XM_017000864.2:c.263C>T | XP_016856353.1:p.Thr88Ile | |
| XM_017000865.2:c.263C>T | XP_016856354.1:p.Thr88Ile | |
| XM_017000866.2:c.263C>T | XP_016856355.1:p.Thr88Ile | |
| XM_017000867.2:c.263C>T | XP_016856356.1:p.Thr88Ile | |
| XM_017000868.2:c.263C>T | XP_016856357.1:p.Thr88Ile | |
| NM_007375.4:c.263C>T MANE Select | NP_031401.1:p.Thr88Ile |