Linked Data
ClinVar Variation Id:
204279
dbSNP Id:
rs149150736
ExAC:
10:99371339 C / T
gnomAD v2:
10-99371339-C-T
gnomAD v3:
10-97611582-C-T
gnomAD v4:
10-97611582-C-T
PubMed:
PMID:22391140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97611582C>T , CM000672.2:g.97611582C>T | GRCh38 |
| NC_000010.10:g.99371339C>T , CM000672.1:g.99371339C>T | GRCh37 |
| NC_000010.9:g.99361329C>T | NCBI36 |
| NG_027922.1:g.32238C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370646.9:c.907C>T MANE Select | ENSP00000359680.4:p.Arg303Cys | |
| ENST00000370646.8:c.907C>T | ENSP00000359680.4:p.Arg303Cys | |
| ENST00000370647.8:c.418C>T | ENSP00000359681.4:p.Arg140Cys | |
| ENST00000370649.3:c.345+9592C>T | ENSP00000359683.3:n.345+9592C>T | |
| NM_001134670.1:c.418C>T | NP_001128142.1:p.Arg140Cys | |
| NM_138413.3:c.907C>T | NP_612422.2:p.Arg303Cys | |
| NM_138413.4:c.907C>T MANE Select | NP_612422.2:p.Arg303Cys | |
| NM_001134670.2:c.418C>T | NP_001128142.1:p.Arg140Cys |