Linked Data
ClinVar Variation Id:
209924
dbSNP Id:
rs7334543
gnomAD v2:
13-32973276-A-G
gnomAD v3:
13-32399139-A-G
gnomAD v4:
13-32399139-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32399139A>G , CM000675.2:g.32399139A>G | GRCh38 |
| NC_000013.10:g.32973276A>G , CM000675.1:g.32973276A>G | GRCh37 |
| NC_000013.9:g.31871276A>G | NCBI36 |
| NG_012772.3:g.88660A>G , LRG_293:g.88660A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*1149A>G | ENSP00000434898.2:n.*1149A>G | |
| ENST00000530893.7:c.*369A>G | ENSP00000499438.2:n.*369A>G | |
| ENST00000380152.8:c.*369A>G MANE Select | ENSP00000369497.3:n.*369A>G | |
| ENST00000544455.6:c.*369A>G | ENSP00000439902.1:n.*369A>G | |
| ENST00000614259.2:c.10634A>G | ENSP00000506251.1:n.10634A>G | |
| ENST00000680887.1:c.*369A>G | ENSP00000505508.1:n.*369A>G | |
| ENST00000380152.7:c.*369A>G | ENSP00000369497.3:n.*369A>G | |
| ENST00000544455.5:c.*369A>G | ENSP00000439902.1:n.*369A>G | |
| NM_000059.3:c.*369A>G , LRG_293t1:c.*369A>G | NP_000050.2:n.*369A>G | |
| XM_011535203.1:c.*369A>G | XP_011533505.1:n.*369A>G | |
| XM_011535204.1:c.*369A>G | XP_011533506.1:n.*369A>G | |
| NM_000059.4:c.*369A>G MANE Select | NP_000050.3:n.*369A>G |