Linked Data
ClinVar Variation Id:
1484742
ClinVar RCV Id:
RCV002006027
dbSNP Id:
rs531061920
ExAC:
2:42275892 C / G
gnomAD v2:
2-42275892-C-G
gnomAD v3:
2-42048752-C-G
gnomAD v4:
2-42048752-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42048752C>G , CM000664.2:g.42048752C>G | GRCh38 |
| NC_000002.11:g.42275892C>G , CM000664.1:g.42275892C>G | GRCh37 |
| NC_000002.10:g.42129396C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294964.6:c.553C>G MANE Select | ENSP00000294964.5:p.Arg185Gly | |
| ENST00000294964.5:c.553C>G | ENSP00000294964.5:p.Arg185Gly | |
| ENST00000401498.6:c.411C>G | ENSP00000385220.2:p.Tyr137Ter | |
| ENST00000485578.1:n.174C>G | ||
| NM_138370.2:c.553C>G | NP_612379.2:p.Arg185Gly | |
| NM_138370.3:c.553C>G MANE Select | NP_612379.2:p.Arg185Gly |