Linked Data
ClinVar Variation Id:
413437
ClinVar RCV Id:
RCV000460479
RCV000564724
RCV000615584
RCV001124521
RCV001124520
RCV001284065
RCV001420984
RCV002311780
dbSNP Id:
rs549489716
ExAC:
18:48604810 G / A
gnomAD v2:
18-48604810-G-A
gnomAD v3:
18-51078440-G-A
gnomAD v4:
18-51078440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078440G>A , CM000680.2:g.51078440G>A | GRCh38 |
| NC_000018.9:g.48604810G>A , CM000680.1:g.48604810G>A | GRCh37 |
| NC_000018.8:g.46858808G>A | NCBI36 |
| NG_013013.2:g.115401G>A , LRG_318:g.115401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1632G>A | ENSP00000465878.2:p.Pro544= | |
| ENST00000589076.6:c.1632G>A | ENSP00000466934.2:p.Pro544= | |
| ENST00000589941.2:c.1632G>A | ENSP00000465874.2:p.Pro544= | |
| ENST00000590061.2:c.1632G>A | ENSP00000464772.2:p.Pro544= | |
| ENST00000593223.2:c.*1629G>A | ENSP00000466118.2:n.*1629G>A | |
| ENST00000611848.2:c.*284G>A | ENSP00000478613.2:n.*284G>A | |
| ENST00000684953.1:n.3647G>A | ||
| ENST00000685090.1:n.3562G>A | ||
| ENST00000685232.1:n.1853G>A | ||
| ENST00000688574.1:n.1740G>A | ||
| ENST00000691124.1:n.4593G>A | ||
| ENST00000342988.8:c.1632G>A MANE Select | ENSP00000341551.3:p.Pro544= | |
| ENST00000342988.7:c.1632G>A | ENSP00000341551.3:p.Pro544= | |
| ENST00000398417.6:c.1632G>A | ENSP00000381452.1:p.Pro544= | |
| ENST00000586253.1:n.354G>A | ||
| ENST00000588745.5:c.1344G>A | ENSP00000464901.1:p.Pro448= | |
| ENST00000591126.5:n.3633G>A | ||
| ENST00000592186.5:c.1279G>A | ENSP00000468611.1:n.1279G>A | |
| ENST00000611848.1:c.945G>A | ||
| NM_005359.5:c.1632G>A , LRG_318t1:c.1632G>A | NP_005350.1:p.Pro544= | |
| NM_005359.6:c.1632G>A MANE Select | NP_005350.1:p.Pro544= |