Linked Data
ClinVar Variation Id:
302547
ClinVar RCV Id:
RCV000261984
dbSNP Id:
rs2228054
ExAC:
11:117864113 G / A
gnomAD v2:
11-117864113-G-A
gnomAD v3:
11-117993398-G-A
gnomAD v4:
11-117993398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117993398G>A , CM000673.2:g.117993398G>A | GRCh38 |
| NC_000011.9:g.117864113G>A , CM000673.1:g.117864113G>A | GRCh37 |
| NC_000011.8:g.117369323G>A | NCBI36 |
| NG_016275.1:g.12008G>A , LRG_151:g.12008G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525467.2:n.873G>A | ||
| ENST00000696732.1:n.2374G>A | ||
| ENST00000227752.8:c.525G>A MANE Select | ENSP00000227752.4:p.Pro175= | |
| ENST00000529924.6:n.2103G>A | ||
| ENST00000227752.7:c.525G>A | ENSP00000227752.3:p.Pro175= | |
| ENST00000526544.5:c.*61G>A | ENSP00000435317.1:n.*61G>A | |
| ENST00000529924.5:n.2103G>A | ||
| ENST00000530178.1:n.391G>A | ||
| ENST00000530761.5:n.902G>A | ||
| ENST00000532009.1:n.341G>A | ||
| ENST00000533700.5:n.732G>A | ||
| ENST00000534335.1:n.345G>A | ||
| ENST00000534574.5:c.*465G>A | ENSP00000436328.1:n.*465G>A | |
| NM_001558.3:c.525G>A , LRG_151t1:c.525G>A | NP_001549.2:p.Pro175= | |
| NR_026691.1:n.732G>A | ||
| XM_024448493.1:c.78G>A | XP_024304261.1:p.Pro26= | |
| NM_001558.4:c.525G>A MANE Select | NP_001549.2:p.Pro175= | |
| NR_026691.2:n.729G>A |