Linked Data
ClinVar Variation Id:
2407548
ClinVar RCV Id:
RCV004237811
dbSNP Id:
rs968426978
gnomAD v2:
4-24801312-G-C
gnomAD v3:
4-24799690-G-C
gnomAD v4:
4-24799690-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799690G>C , CM000666.2:g.24799690G>C | GRCh38 |
| NC_000004.11:g.24801312G>C , CM000666.1:g.24801312G>C | GRCh37 |
| NC_000004.10:g.24410410G>C | NCBI36 |
| NG_012213.1:g.9228G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.169G>C MANE Select | ENSP00000371554.3:p.Gly57Arg | |
| ENST00000382120.3:c.169G>C | ENSP00000371554.3:p.Gly57Arg | |
| NM_003102.2:c.169G>C | NP_003093.2:p.Gly57Arg | |
| XR_427488.1:n.359G>C | ||
| NM_003102.3:c.169G>C | NP_003093.2:p.Gly57Arg | |
| NM_003102.4:c.169G>C MANE Select | NP_003093.2:p.Gly57Arg |