Linked Data
ClinVar Variation Id:
374894
ClinVar RCV Id:
RCV000415525
dbSNP Id:
rs1057519296
gnomAD v3:
5-110746309-C-T
gnomAD v4:
5-110746309-C-T
PubMed:
PMID:27390132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110746309C>T , CM000667.2:g.110746309C>T | GRCh38 |
| NC_000005.9:g.110082010C>T , CM000667.1:g.110082010C>T | GRCh37 |
| NC_000005.8:g.110109909C>T | NCBI36 |
| NG_051334.1:g.13174C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355943.8:c.425C>T MANE Select | ENSP00000348211.3:p.Thr142Ile | |
| ENST00000355943.7:c.425C>T | ENSP00000348211.3:p.Thr142Ile | |
| ENST00000447245.6:c.425C>T | ENSP00000399717.2:p.Thr142Ile | |
| ENST00000502462.6:n.741C>T | ||
| ENST00000504098.1:c.-14C>T | ENSP00000425708.1:n.-14C>T | |
| ENST00000508781.5:n.254C>T | ||
| ENST00000513807.5:c.-62C>T | ENSP00000421134.1:n.-62C>T | |
| NM_001303249.1:c.425C>T | NP_001290178.1:p.Thr142Ile | |
| NM_001303250.1:c.152C>T | NP_001290179.1:p.Thr51Ile | |
| NM_138773.2:c.425C>T | NP_620128.1:p.Thr142Ile | |
| XM_011543708.1:c.425C>T | XP_011542010.1:p.Thr142Ile | |
| NM_001303249.2:c.425C>T | NP_001290178.1:p.Thr142Ile | |
| NM_001303250.2:c.152C>T | NP_001290179.1:p.Thr51Ile | |
| NM_138773.3:c.425C>T | NP_620128.1:p.Thr142Ile | |
| NR_138151.1:n.573C>T | ||
| NM_138773.4:c.425C>T MANE Select | NP_620128.1:p.Thr142Ile | |
| NM_001303249.3:c.425C>T | NP_001290178.1:p.Thr142Ile | |
| NM_001303250.3:c.152C>T | NP_001290179.1:p.Thr51Ile | |
| NR_138151.2:n.538C>T |