Linked Data
ClinVar Variation Id:
4726
ClinVar RCV Id:
RCV000004991
dbSNP Id:
rs121908340
ExAC:
16:5125448 C / G
gnomAD v2:
16-5125448-C-G
gnomAD v3:
16-5075447-C-G
gnomAD v4:
16-5075447-C-G
PubMed:
PMID:14709599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5075447C>G , CM000678.2:g.5075447C>G | GRCh38 |
| NC_000016.9:g.5125448C>G , CM000678.1:g.5125448C>G | GRCh37 |
| NC_000016.8:g.5065449C>G | NCBI36 |
| NG_009202.1:g.8639C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.2588C>G | ||
| ENST00000682020.1:c.-55-1998C>G | ENSP00000508075.1:n.-55-1998C>G | |
| ENST00000682206.1:c.450C>G | ENSP00000508285.1:p.Ser150Arg | |
| ENST00000682314.1:n.494C>G | ||
| ENST00000682327.1:c.-40C>G | ENSP00000507058.1:n.-40C>G | |
| ENST00000682349.1:n.2588C>G | ||
| ENST00000682703.1:n.2588C>G | ||
| ENST00000682797.1:c.450C>G | ENSP00000507582.1:p.Ser150Arg | |
| ENST00000682985.1:c.-40C>G | ENSP00000507598.1:n.-40C>G | |
| ENST00000683433.1:c.-55-1998C>G | ENSP00000507463.1:n.-55-1998C>G | |
| ENST00000683685.1:n.494C>G | ||
| ENST00000683710.1:c.*413C>G | ENSP00000506785.1:n.*413C>G | |
| ENST00000683739.1:c.117C>G | ENSP00000507002.1:p.Ser39Arg | |
| ENST00000683772.1:n.494C>G | ||
| ENST00000684008.1:c.384C>G | ENSP00000507962.1:p.Ser128Arg | |
| ENST00000684190.1:c.450C>G | ENSP00000507554.1:p.Ser150Arg | |
| ENST00000684335.1:c.450C>G | ENSP00000508112.1:p.Ser150Arg | |
| ENST00000262374.10:c.450C>G MANE Select | ENSP00000262374.5:p.Ser150Arg | |
| ENST00000650085.1:n.1270C>G | ||
| ENST00000262374.9:c.450C>G | ENSP00000262374.4:p.Ser150Arg | |
| ENST00000544428.1:c.117C>G | ENSP00000440019.1:p.Ser39Arg | |
| ENST00000586840.1:c.440C>G | ENSP00000467538.1:p.Ala147Gly | |
| ENST00000588623.5:c.117C>G | ENSP00000468118.1:p.Ser39Arg | |
| ENST00000591783.5:c.117C>G | ENSP00000464700.1:p.Ser39Arg | |
| ENST00000591822.5:c.*351C>G | ENSP00000467865.1:n.*351C>G | |
| NM_019109.4:c.450C>G | NP_061982.3:p.Ser150Arg | |
| XM_011522565.1:c.117C>G | XP_011520867.1:p.Ser39Arg | |
| XR_932882.1:n.491C>G | ||
| NM_001330504.1:c.117C>G | NP_001317433.1:p.Ser39Arg | |
| XM_017023457.2:c.450C>G | XP_016878946.1:p.Ser150Arg | |
| XM_017023458.1:c.117C>G | XP_016878947.1:p.Ser39Arg | |
| XR_932882.3:n.475C>G | ||
| NM_019109.5:c.450C>G MANE Select | NP_061982.3:p.Ser150Arg | |
| NM_001330504.2:c.117C>G | NP_001317433.1:p.Ser39Arg |