Linked Data
ClinVar Variation Id:
2664408
ClinVar RCV Id:
RCV003447368
dbSNP Id:
rs553573861
gnomAD v4:
10-97611519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97611519C>T , CM000672.2:g.97611519C>T | GRCh38 |
| NC_000010.10:g.99371276C>T , CM000672.1:g.99371276C>T | GRCh37 |
| NC_000010.9:g.99361266C>T | NCBI36 |
| NG_027922.1:g.32175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.844C>T MANE Select | ENSP00000359680.4:p.Arg282Cys | |
| ENST00000370646.8:c.844C>T | ENSP00000359680.4:p.Arg282Cys | |
| ENST00000370647.8:c.355C>T | ENSP00000359681.4:p.Arg119Cys | |
| ENST00000370649.3:c.345+9529C>T | ENSP00000359683.3:n.345+9529C>T | |
| NM_001134670.1:c.355C>T | NP_001128142.1:p.Arg119Cys | |
| NM_138413.3:c.844C>T | NP_612422.2:p.Arg282Cys | |
| NM_138413.4:c.844C>T MANE Select | NP_612422.2:p.Arg282Cys | |
| NM_001134670.2:c.355C>T | NP_001128142.1:p.Arg119Cys |