Linked Data
ClinVar Variation Id:
478442
ClinVar RCV Id:
RCV000531911
dbSNP Id:
rs368850443
ExAC:
3:52387607 C / G
gnomAD v2:
3-52387607-C-G
gnomAD v3:
3-52353591-C-G
gnomAD v4:
3-52353591-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52353591C>G , CM000665.2:g.52353591C>G | GRCh38 |
| NC_000003.11:g.52387607C>G , CM000665.1:g.52387607C>G | GRCh37 |
| NC_000003.10:g.52362647C>G | NCBI36 |
| NG_052911.1:g.42273C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.3438C>G MANE Select | ENSP00000401514.2:p.Ser1146Arg | |
| ENST00000420323.6:c.3438C>G | ENSP00000401514.2:p.Ser1146Arg | |
| ENST00000486752.5:n.3699C>G | ||
| ENST00000497875.1:n.3603C>G | ||
| NM_015512.4:c.3438C>G | NP_056327.4:p.Ser1146Arg | |
| XM_011533577.1:c.3438C>G | XP_011531879.1:p.Ser1146Arg | |
| XM_017006129.1:c.3438C>G | XP_016861618.1:p.Ser1146Arg | |
| XM_017006130.1:c.3438C>G | XP_016861619.1:p.Ser1146Arg | |
| XM_017006131.1:c.3438C>G | XP_016861620.1:p.Ser1146Arg | |
| XM_017006132.1:c.3438C>G | XP_016861621.1:p.Ser1146Arg | |
| XM_017006133.1:c.3438C>G | XP_016861622.1:p.Ser1146Arg | |
| XR_001740098.1:n.6587C>G | ||
| XR_001740099.1:n.6587C>G | ||
| NM_015512.5:c.3438C>G MANE Select | NP_056327.4:p.Ser1146Arg |