Linked Data
ClinVar Variation Id:
40424
ClinVar RCV Id:
RCV000154693
RCV000460543
RCV001103081
RCV002227048
RCV001813232
RCV003315532
RCV002426536
dbSNP Id:
rs149533467
ExAC:
11:119170254 G / A
gnomAD v2:
11-119170254-G-A
gnomAD v3:
11-119299544-G-A
gnomAD v4:
11-119299544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119299544G>A , CM000673.2:g.119299544G>A | GRCh38 |
| NC_000011.9:g.119170254G>A , CM000673.1:g.119170254G>A | GRCh37 |
| NC_000011.8:g.118675464G>A | NCBI36 |
| NG_016808.1:g.98265G>A , LRG_608:g.98265G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1936G>A | ENSP00000515005.1:n.*1936G>A | |
| ENST00000264033.6:c.2484G>A MANE Select | ENSP00000264033.3:p.Pro828= | |
| ENST00000637974.1:c.2478G>A | ENSP00000490763.1:p.Pro826= | |
| ENST00000264033.5:c.2484G>A | ENSP00000264033.3:p.Pro828= | |
| ENST00000634301.1:c.219G>A | ENSP00000489556.1:p.Pro73= | |
| ENST00000634586.1:c.2484G>A | ENSP00000489218.1:p.Pro828= | |
| ENST00000634840.1:c.2352G>A | ENSP00000489324.1:p.Pro784= | |
| NM_005188.3:c.2484G>A , LRG_608t1:c.2484G>A | NP_005179.2:p.Pro828= | |
| NM_005188.4:c.2484G>A MANE Select | NP_005179.2:p.Pro828= |