Linked Data
ClinVar Variation Id:
127950
ClinVar RCV Id:
RCV000115883
RCV000204731
RCV000306889
RCV000346296
RCV000656977
RCV000770696
RCV000213004
RCV002228348
RCV002311002
dbSNP Id:
rs200772603
ExAC:
18:48575235 G / A
gnomAD v2:
18-48575235-G-A
gnomAD v3:
18-51048865-G-A
gnomAD v4:
18-51048865-G-A
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51048865G>A , CM000680.2:g.51048865G>A | GRCh38 |
| NC_000018.9:g.48575235G>A , CM000680.1:g.48575235G>A | GRCh37 |
| NC_000018.8:g.46829233G>A | NCBI36 |
| NG_013013.2:g.85826G>A , LRG_318:g.85826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.424+5G>A | ENSP00000465878.2:n.424+5G>A | |
| ENST00000589076.6:c.424+5G>A | ENSP00000466934.2:n.424+5G>A | |
| ENST00000589941.2:c.424+5G>A | ENSP00000465874.2:n.424+5G>A | |
| ENST00000590061.2:c.424+5G>A | ENSP00000464772.2:n.424+5G>A | |
| ENST00000593223.2:c.424+5G>A | ENSP00000466118.2:n.424+5G>A | |
| ENST00000611848.2:c.424+5G>A | ENSP00000478613.2:n.424+5G>A | |
| ENST00000342988.8:c.424+5G>A MANE Select | ENSP00000341551.3:n.424+5G>A | |
| ENST00000342988.7:c.424+5G>A | ENSP00000341551.3:n.424+5G>A | |
| ENST00000398417.6:c.424+5G>A | ENSP00000381452.1:n.424+5G>A | |
| ENST00000588745.5:c.424+5G>A | ENSP00000464901.1:n.424+5G>A | |
| ENST00000589706.1:n.292+5G>A | ||
| ENST00000590722.2:c.*447+5G>A | ENSP00000465737.1:n.*447+5G>A | |
| ENST00000591914.5:c.424+5G>A | ENSP00000466941.1:n.424+5G>A | |
| ENST00000592186.5:c.424+5G>A | ENSP00000468611.1:n.424+5G>A | |
| ENST00000592911.5:n.202+5G>A | ||
| NM_005359.5:c.424+5G>A , LRG_318t1:c.424+5G>A | NP_005350.1:n.424+5G>A | |
| NM_005359.6:c.424+5G>A MANE Select | NP_005350.1:n.424+5G>A |