Linked Data
ClinVar Variation Id:
317892
ClinVar RCV Id:
RCV000398883
dbSNP Id:
rs371200622
ExAC:
16:1412865 G / A
gnomAD v2:
16-1412865-G-A
gnomAD v4:
16-1362864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362864G>A , CM000678.2:g.1362864G>A | GRCh38 |
| NC_000016.9:g.1412865G>A , CM000678.1:g.1412865G>A | GRCh37 |
| NC_000016.8:g.1352866G>A | NCBI36 |
| NG_016985.1:g.15966G>A | |
| NG_033129.1:g.56841C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.880G>A | ||
| ENST00000529110.2:c.865G>A | ENSP00000435349.2:p.Gly289Ser | |
| ENST00000529957.6:n.839G>A | ||
| ENST00000683366.1:c.*513G>A | ENSP00000507283.1:n.*513G>A | |
| ENST00000683887.1:c.829G>A | ENSP00000506886.1:p.Gly277Ser | |
| ENST00000684100.1:n.775G>A | ||
| ENST00000684126.1:n.915G>A | ||
| ENST00000684688.1:n.1406G>A | ||
| ENST00000204679.9:c.781G>A MANE Select | ENSP00000204679.4:p.Gly261Ser | |
| ENST00000204679.8:c.781G>A | ENSP00000204679.4:p.Gly261Ser | |
| ENST00000527076.1:n.2004G>A | ||
| ENST00000527168.5:n.948G>A | ||
| ENST00000529957.5:n.880G>A | ||
| NM_032520.4:c.781G>A | NP_115909.1:p.Gly261Ser | |
| XM_017023782.1:c.829G>A | XP_016879271.1:p.Gly277Ser | |
| XM_017023783.1:c.421G>A | XP_016879272.1:p.Gly141Ser | |
| NM_032520.5:c.781G>A MANE Select | NP_115909.1:p.Gly261Ser |