Linked Data
ClinVar Variation Id:
4606
ClinVar RCV Id:
RCV000004869
dbSNP Id:
rs121908319
gnomAD v2:
8-143822644-A-G
gnomAD v4:
8-142741226-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741226A>G , CM000670.2:g.142741226A>G | GRCh38 |
| NC_000008.10:g.143822644A>G , CM000670.1:g.143822644A>G | GRCh37 |
| NC_000008.9:g.143819646A>G | NCBI36 |
| NG_011494.1:g.6186T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246515.2:c.229T>C MANE Select | ENSP00000246515.1:p.Cys77Arg | |
| ENST00000246515.1:c.229T>C | ENSP00000246515.1:p.Cys77Arg | |
| NM_020427.2:c.229T>C | NP_065160.1:p.Cys77Arg | |
| NM_020427.3:c.229T>C MANE Select | NP_065160.1:p.Cys77Arg |