Linked Data
ClinVar Variation Id:
2474594
ClinVar RCV Id:
RCV003203272
dbSNP Id:
rs1030441878
gnomAD v3:
10-133373273-A-G
gnomAD v4:
10-133373273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373273A>G , CM000672.2:g.133373273A>G | GRCh38 |
| NC_000010.10:g.135186777A>G , CM000672.1:g.135186777A>G | GRCh37 |
| NC_000010.9:g.135036767A>G | NCBI36 |
| NG_042077.1:g.5132T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.61T>C MANE Select | ENSP00000357535.3:p.Cys21Arg | |
| ENST00000368547.3:c.61T>C | ENSP00000357535.3:p.Cys21Arg | |
| NM_004092.3:c.61T>C | NP_004083.3:p.Cys21Arg | |
| XR_002956965.1:n.124T>C | ||
| NM_004092.4:c.61T>C MANE Select | NP_004083.3:p.Cys21Arg |