Linked Data
ClinVar Variation Id:
2041565
ClinVar RCV Id:
RCV002891153
dbSNP Id:
rs142581779
ExAC:
6:1611103 C / G
gnomAD v2:
6-1611103-C-G
gnomAD v3:
6-1610868-C-G
gnomAD v4:
6-1610868-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610868C>G , CM000668.2:g.1610868C>G | GRCh38 |
| NC_000006.11:g.1611103C>G , CM000668.1:g.1611103C>G | GRCh37 |
| NC_000006.10:g.1556102C>G | NCBI36 |
| NG_009368.1:g.5423C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.423C>G MANE Select | ENSP00000493906.1:p.Arg141= | |
| ENST00000380874.3:c.423C>G | ENSP00000370256.2:p.Arg141= | |
| NM_001453.2:c.423C>G | NP_001444.2:p.Arg141= | |
| NM_001453.3:c.423C>G MANE Select | NP_001444.2:p.Arg141= |