Linked Data
ClinVar Variation Id:
142165
ClinVar RCV Id:
RCV000131130
RCV000679584
RCV000555043
RCV001374834
RCV002311018
RCV002478399
RCV004525878
RCV003474774
dbSNP Id:
rs139569694
ExAC:
18:48591943 A / G
gnomAD v2:
18-48591943-A-G
gnomAD v3:
18-51065573-A-G
gnomAD v4:
18-51065573-A-G
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51065573A>G , CM000680.2:g.51065573A>G | GRCh38 |
| NC_000018.9:g.48591943A>G , CM000680.1:g.48591943A>G | GRCh37 |
| NC_000018.8:g.46845941A>G | NCBI36 |
| NG_013013.2:g.102534A>G , LRG_318:g.102534A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1106A>G | ENSP00000465878.2:p.Asn369Ser | |
| ENST00000589076.6:c.1106A>G | ENSP00000466934.2:p.Asn369Ser | |
| ENST00000589941.2:c.1106A>G | ENSP00000465874.2:p.Asn369Ser | |
| ENST00000590061.2:c.1106A>G | ENSP00000464772.2:p.Asn369Ser | |
| ENST00000593223.2:c.1106A>G | ENSP00000466118.2:p.Asn369Ser | |
| ENST00000611848.2:c.1106A>G | ENSP00000478613.2:p.Asn369Ser | |
| ENST00000684953.1:n.2478A>G | ||
| ENST00000685090.1:n.1557A>G | ||
| ENST00000685232.1:n.1214A>G | ||
| ENST00000688307.1:n.357A>G | ||
| ENST00000688574.1:n.1214A>G | ||
| ENST00000688903.1:n.1320A>G | ||
| ENST00000691124.1:n.2588A>G | ||
| ENST00000342988.8:c.1106A>G MANE Select | ENSP00000341551.3:p.Asn369Ser | |
| ENST00000342988.7:c.1106A>G | ENSP00000341551.3:p.Asn369Ser | |
| ENST00000398417.6:c.1106A>G | ENSP00000381452.1:p.Asn369Ser | |
| ENST00000588745.5:c.818A>G | ENSP00000464901.1:p.Asn273Ser | |
| ENST00000591126.5:n.3107A>G | ||
| ENST00000592186.5:c.955+5657A>G | ENSP00000468611.1:n.955+5657A>G | |
| ENST00000611848.1:c.306A>G | ||
| NM_005359.5:c.1106A>G , LRG_318t1:c.1106A>G | NP_005350.1:p.Asn369Ser | |
| NM_005359.6:c.1106A>G MANE Select | NP_005350.1:p.Asn369Ser |