Linked Data
ClinVar Variation Id:
134530
dbSNP Id:
rs6897932
ExAC:
5:35874575 C / T
gnomAD v2:
5-35874575-C-T
gnomAD v3:
5-35874473-C-T
gnomAD v4:
5-35874473-C-T
ERepo:
CA160105/MONDO:0012163/119
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35874473C>T , CM000667.2:g.35874473C>T | GRCh38 |
| NC_000005.9:g.35874575C>T , CM000667.1:g.35874575C>T | GRCh37 |
| NC_000005.8:g.35910332C>T | NCBI36 |
| NG_009567.1:g.22585C>T , LRG_74:g.22585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.731C>T MANE Select | ENSP00000306157.3:p.Thr244Ile | |
| ENST00000303115.7:c.731C>T | ENSP00000306157.3:p.Thr244Ile | |
| ENST00000505093.1:c.115+825C>T | ENSP00000426069.1:n.115+825C>T | |
| ENST00000506850.5:c.706+825C>T | ENSP00000421207.1:n.706+825C>T | |
| ENST00000509668.1:n.473C>T | ||
| ENST00000514217.5:c.538-1039C>T | ENSP00000427688.1:n.538-1039C>T | |
| NM_002185.3:c.731C>T | NP_002176.2:p.Thr244Ile | |
| NR_120485.1:n.641-1039C>T | ||
| XM_005248299.2:c.706+825C>T | XP_005248356.1:n.706+825C>T | |
| XM_005248300.1:c.706+825C>T | XP_005248357.1:n.706+825C>T | |
| XM_011514037.1:c.731C>T | XP_011512339.1:p.Thr244Ile | |
| NM_002185.4:c.731C>T | NP_002176.2:p.Thr244Ile | |
| NR_120485.2:n.667-1039C>T | ||
| XM_005248299.4:c.706+825C>T | XP_005248356.1:n.706+825C>T | |
| NM_002185.5:c.731C>T MANE Select | NP_002176.2:p.Thr244Ile | |
| NR_120485.3:n.625-1039C>T |