Linked Data
ClinVar Variation Id:
242503
ClinVar RCV Id:
RCV000199635
dbSNP Id:
rs200788729
ExAC:
10:12150003 C / T
gnomAD v2:
10-12150003-C-T
gnomAD v3:
10-12108004-C-T
gnomAD v4:
10-12108004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12108004C>T , CM000672.2:g.12108004C>T | GRCh38 |
| NC_000010.10:g.12150003C>T , CM000672.1:g.12150003C>T | GRCh37 |
| NC_000010.9:g.12190009C>T | NCBI36 |
| NG_033248.1:g.44088C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263035.9:c.2143C>T MANE Select | ENSP00000263035.4:p.Arg715Cys | |
| ENST00000263035.8:c.2143C>T | ENSP00000263035.4:p.Arg715Cys | |
| ENST00000448829.1:c.646C>T | ||
| NM_018706.6:c.2143C>T | NP_061176.3:p.Arg715Cys | |
| NM_018706.7:c.2143C>T MANE Select | NP_061176.4:p.Arg715Cys |