Linked Data
ClinVar Variation Id:
52792
dbSNP Id:
rs81002889
gnomAD v4:
13-32394688-G-A
PubMed:
PMID:17924331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394688G>A , CM000675.2:g.32394688G>A | GRCh38 |
| NC_000013.10:g.32968825G>A , CM000675.1:g.32968825G>A | GRCh37 |
| NC_000013.9:g.31866825G>A | NCBI36 |
| NG_012772.3:g.84209G>A , LRG_293:g.84209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9257-1G>A | ENSP00000434898.2:n.9257-1G>A | |
| ENST00000528762.2:c.*624-1G>A | ENSP00000433168.2:n.*624-1G>A | |
| ENST00000530893.7:c.8888-1G>A | ENSP00000499438.2:n.8888-1G>A | |
| ENST00000665585.2:c.*819-1G>A | ENSP00000499570.2:n.*819-1G>A | |
| ENST00000666593.2:c.*102-1G>A | ENSP00000499256.2:n.*102-1G>A | |
| ENST00000700202.2:c.9206-1G>A | ENSP00000514856.2:n.9206-1G>A | |
| ENST00000700202.1:c.1673-1G>A | ENSP00000514856.1:n.1673-1G>A | |
| ENST00000700203.1:n.1384-1G>A | ||
| ENST00000380152.8:c.9257-1G>A MANE Select | ENSP00000369497.3:n.9257-1G>A | |
| ENST00000544455.6:c.9257-1G>A | ENSP00000439902.1:n.9257-1G>A | |
| ENST00000614259.2:c.9265-1G>A | ENSP00000506251.1:n.9265-1G>A | |
| ENST00000665585.1:c.2135-1G>A | ||
| ENST00000666593.1:c.279-1G>A | ENSP00000499256.1:n.279-1G>A | |
| ENST00000680887.1:c.9257-1G>A | ENSP00000505508.1:n.9257-1G>A | |
| ENST00000380152.7:c.9257-1G>A | ENSP00000369497.3:n.9257-1G>A | |
| ENST00000470094.1:c.214-1G>A | ||
| ENST00000544455.5:c.9257-1G>A | ENSP00000439902.1:n.9257-1G>A | |
| NM_000059.3:c.9257-1G>A , LRG_293t1:c.9257-1G>A | NP_000050.2:n.9257-1G>A | |
| XM_011535203.1:c.9257-1G>A | XP_011533505.1:n.9257-1G>A | |
| XM_011535204.1:c.9161-1G>A | XP_011533506.1:n.9161-1G>A | |
| NM_000059.4:c.9257-1G>A MANE Select | NP_000050.3:n.9257-1G>A |