Linked Data
ClinVar Variation Id:
1584758
ClinVar RCV Id:
RCV002102822
dbSNP Id:
rs55918906
ExAC:
2:42275876 G / C
gnomAD v2:
2-42275876-G-C
gnomAD v3:
2-42048736-G-C
gnomAD v4:
2-42048736-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42048736G>C , CM000664.2:g.42048736G>C | GRCh38 |
| NC_000002.11:g.42275876G>C , CM000664.1:g.42275876G>C | GRCh37 |
| NC_000002.10:g.42129380G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294964.6:c.537G>C MANE Select | ENSP00000294964.5:p.Val179= | |
| ENST00000294964.5:c.537G>C | ENSP00000294964.5:p.Val179= | |
| ENST00000401498.6:c.395G>C | ENSP00000385220.2:p.Cys132Ser | |
| ENST00000485578.1:n.158G>C | ||
| NM_138370.2:c.537G>C | NP_612379.2:p.Val179= | |
| NM_138370.3:c.537G>C MANE Select | NP_612379.2:p.Val179= |