Linked Data
ClinVar Variation Id:
2884113
ClinVar RCV Id:
RCV003724255
dbSNP Id:
rs368522164
gnomAD v4:
17-47283452-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283452A>C , CM000679.2:g.47283452A>C | GRCh38 |
| NC_000017.10:g.45360818A>C , CM000679.1:g.45360818A>C | GRCh37 |
| NC_000017.9:g.42715817A>C | NCBI36 |
| NG_008332.2:g.34611A>C , LRG_481:g.34611A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.264A>C | ENSP00000513002.1:p.Arg88= | |
| ENST00000559488.7:c.264A>C MANE Select | ENSP00000452786.2:p.Arg88= | |
| ENST00000559488.5:c.264A>C | ENSP00000452786.1:p.Arg88= | |
| ENST00000560629.1:c.229A>C | ||
| ENST00000571680.1:c.264A>C | ENSP00000461626.1:p.Arg88= | |
| NM_000212.2:c.264A>C , LRG_481t1:c.264A>C | NP_000203.2:p.Arg88= | |
| NM_000212.3:c.264A>C MANE Select | NP_000203.2:p.Arg88= |