Linked Data
ClinVar Variation Id:
4603
ClinVar RCV Id:
RCV000004866
dbSNP Id:
rs28937888
gnomAD v3:
8-142741199-C-G
gnomAD v4:
8-142741199-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741199C>G , CM000670.2:g.142741199C>G | GRCh38 |
| NC_000008.10:g.143822617C>G , CM000670.1:g.143822617C>G | GRCh37 |
| NC_000008.9:g.143819619C>G | NCBI36 |
| NG_011494.1:g.6213G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246515.2:c.256G>C MANE Select | ENSP00000246515.1:p.Gly86Arg | |
| ENST00000246515.1:c.256G>C | ENSP00000246515.1:p.Gly86Arg | |
| NM_020427.2:c.256G>C | NP_065160.1:p.Gly86Arg | |
| NM_020427.3:c.256G>C MANE Select | NP_065160.1:p.Gly86Arg |