Linked Data
ClinVar Variation Id:
370432
dbSNP Id:
rs989639224
gnomAD v2:
11-6412983-C-T
gnomAD v3:
11-6391753-C-T
gnomAD v4:
11-6391753-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391753C>T , CM000673.2:g.6391753C>T | GRCh38 |
| NC_000011.9:g.6412983C>T , CM000673.1:g.6412983C>T | GRCh37 |
| NC_000011.8:g.6369559C>T | NCBI36 |
| NG_011780.1:g.6329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.688C>T MANE Select | ENSP00000340409.4:p.Arg230Cys | |
| ENST00000342245.8:c.688C>T | ENSP00000340409.4:p.Arg230Cys | |
| ENST00000527275.5:c.685C>T | ENSP00000435350.1:p.Arg229Cys | |
| ENST00000530395.1:c.-95-37C>T | ENSP00000431479.1:n.-95-37C>T | |
| ENST00000531303.5:c.438+250C>T | ENSP00000432625.1:n.438+250C>T | |
| ENST00000533123.5:c.688C>T | ENSP00000435950.1:p.Arg230Cys | |
| ENST00000533196.1:n.375-253C>T | ||
| ENST00000534405.5:c.688C>T | ENSP00000434353.1:p.Arg230Cys | |
| NM_000543.4:c.688C>T | NP_000534.3:p.Arg230Cys | |
| NM_001007593.2:c.685C>T | NP_001007594.2:p.Arg229Cys | |
| XM_005253075.3:c.688C>T | XP_005253132.1:p.Arg230Cys | |
| XM_011520303.1:c.688C>T | XP_011518605.1:p.Arg230Cys | |
| XM_011520304.1:c.688C>T | XP_011518606.1:p.Arg230Cys | |
| XR_930886.1:n.986C>T | ||
| NM_001318087.1:c.688C>T | NP_001305016.1:p.Arg230Cys | |
| NM_001318088.1:c.-274C>T | NP_001305017.1:n.-274C>T | |
| NM_001365135.1:c.688C>T | NP_001352064.1:p.Arg230Cys | |
| NR_027400.2:n.873C>T | ||
| NR_134502.1:n.623+250C>T | ||
| XM_011520304.2:c.688C>T | XP_011518606.1:p.Arg230Cys | |
| XR_001747940.2:n.813C>T | ||
| XR_002957158.1:n.813C>T | ||
| NM_000543.5:c.688C>T MANE Select | NP_000534.3:p.Arg230Cys | |
| NM_001007593.3:c.685C>T | NP_001007594.2:p.Arg229Cys | |
| NM_001318087.2:c.688C>T | NP_001305016.1:p.Arg230Cys | |
| NM_001318088.2:c.-274C>T | NP_001305017.1:n.-274C>T | |
| NM_001365135.2:c.688C>T | NP_001352064.1:p.Arg230Cys | |
| NR_027400.3:n.813C>T | ||
| NR_134502.2:n.563+250C>T |