Linked Data
ClinVar Variation Id:
491385
dbSNP Id:
rs765352313
ExAC:
13:32972290 T / G
gnomAD v3:
13-32398153-T-G
gnomAD v4:
13-32398153-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398153T>G , CM000675.2:g.32398153T>G | GRCh38 |
| NC_000013.10:g.32972290T>G , CM000675.1:g.32972290T>G | GRCh37 |
| NC_000013.9:g.31870290T>G | NCBI36 |
| NG_012772.3:g.87674T>G , LRG_293:g.87674T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*172-9T>G | ENSP00000434898.2:n.*172-9T>G | |
| ENST00000528762.2:c.*1016-9T>G | ENSP00000433168.2:n.*1016-9T>G | |
| ENST00000530893.7:c.9280-9T>G | ENSP00000499438.2:n.9280-9T>G | |
| ENST00000665585.2:c.*1211-9T>G | ENSP00000499570.2:n.*1211-9T>G | |
| ENST00000700202.2:c.9598-9T>G | ENSP00000514856.2:n.9598-9T>G | |
| ENST00000700202.1:c.2065-9T>G | ENSP00000514856.1:n.2065-9T>G | |
| ENST00000700203.1:n.1776-9T>G | ||
| ENST00000380152.8:c.9649-9T>G MANE Select | ENSP00000369497.3:n.9649-9T>G | |
| ENST00000544455.6:c.9649-9T>G | ENSP00000439902.1:n.9649-9T>G | |
| ENST00000614259.2:c.9657-9T>G | ENSP00000506251.1:n.9657-9T>G | |
| ENST00000665585.1:c.2527-9T>G | ||
| ENST00000680887.1:c.9649-9T>G | ENSP00000505508.1:n.9649-9T>G | |
| ENST00000380152.7:c.9649-9T>G | ENSP00000369497.3:n.9649-9T>G | |
| ENST00000470094.1:c.732-9T>G | ||
| ENST00000533776.1:n.237-9T>G | ||
| ENST00000544455.5:c.9649-9T>G | ENSP00000439902.1:n.9649-9T>G | |
| NM_000059.3:c.9649-9T>G , LRG_293t1:c.9649-9T>G | NP_000050.2:n.9649-9T>G | |
| XM_011535203.1:c.9649-9T>G | XP_011533505.1:n.9649-9T>G | |
| XM_011535204.1:c.9553-9T>G | XP_011533506.1:n.9553-9T>G | |
| NM_000059.4:c.9649-9T>G MANE Select | NP_000050.3:n.9649-9T>G |