Linked Data
ClinVar Variation Id:
551595
ClinVar RCV Id:
RCV000666697
dbSNP Id:
rs1554083754
gnomAD v4:
4-186285811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285811C>T , CM000666.2:g.186285811C>T | GRCh38 |
| NC_000004.11:g.187206965C>T , CM000666.1:g.187206965C>T | GRCh37 |
| NC_000004.10:g.187443959C>T | NCBI36 |
| NG_008051.1:g.24848C>T , LRG_583:g.24848C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1478C>T MANE Select | ENSP00000384957.2:p.Thr493Ile | |
| ENST00000264691.4:c.174C>T | ||
| ENST00000264692.8:c.1316C>T | ENSP00000264692.5:p.Thr439Ile | |
| ENST00000403665.6:c.1478C>T | ENSP00000384957.2:p.Thr493Ile | |
| NM_000128.3:c.1478C>T , LRG_583t1:c.1478C>T | NP_000119.1:p.Thr493Ile | |
| XM_005262821.2:c.1481C>T | XP_005262878.1:p.Thr494Ile | |
| XM_005262822.2:c.1481C>T | XP_005262879.1:p.Thr494Ile | |
| XM_005262823.2:c.1211C>T | XP_005262880.1:p.Thr404Ile | |
| XM_005262824.1:c.1481C>T | XP_005262881.1:p.Thr494Ile | |
| XM_006714137.1:c.1433C>T | XP_006714200.1:p.Thr478Ile | |
| XR_938706.1:n.1886C>T | ||
| XR_938707.1:n.1886C>T | ||
| XM_005262821.4:c.1481C>T | XP_005262878.1:p.Thr494Ile | |
| XM_005262822.4:c.1481C>T | XP_005262879.1:p.Thr494Ile | |
| XM_005262823.4:c.1211C>T | XP_005262880.1:p.Thr404Ile | |
| XM_006714137.3:c.1433C>T | XP_006714200.1:p.Thr478Ile | |
| XR_001741172.2:n.1952C>T | ||
| NM_000128.4:c.1478C>T MANE Select | NP_000119.1:p.Thr493Ile |