Linked Data
ClinVar Variation Id:
930366
ClinVar RCV Id:
RCV001195968
dbSNP Id:
rs749084801
ExAC:
10:17277300 C / T
gnomAD v2:
10-17277300-C-T
gnomAD v3:
10-17235301-C-T
gnomAD v4:
10-17235301-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17235301C>T , CM000672.2:g.17235301C>T | GRCh38 |
| NC_000010.10:g.17277300C>T , CM000672.1:g.17277300C>T | GRCh37 |
| NC_000010.9:g.17317306C>T | NCBI36 |
| NG_012413.1:g.12043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.1141C>T MANE Select | ENSP00000446007.1:p.Arg381Cys | |
| ENST00000224237.9:c.1141C>T | ENSP00000224237.5:p.Arg381Cys | |
| ENST00000469543.5:c.595C>T | ENSP00000431702.1:p.Arg199Cys | |
| ENST00000487938.5:c.1141C>T | ENSP00000435613.1:p.Arg381Cys | |
| ENST00000544301.5:c.1141C>T | ENSP00000446007.1:p.Arg381Cys | |
| NM_003380.3:c.1141C>T | NP_003371.2:p.Arg381Cys | |
| XM_006717500.1:c.1141C>T | XP_006717563.1:p.Arg381Cys | |
| XM_011519649.1:c.1141C>T | XP_011517951.1:p.Arg381Cys | |
| NM_003380.4:c.1141C>T | NP_003371.2:p.Arg381Cys | |
| XM_006717500.2:c.1141C>T | XP_006717563.1:p.Arg381Cys | |
| NM_003380.5:c.1141C>T MANE Select | NP_003371.2:p.Arg381Cys |