Linked Data
ClinVar Variation Id:
187110
dbSNP Id:
rs786203480
gnomAD v3:
13-32376704-A-G
gnomAD v4:
13-32376704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376704A>G , CM000675.2:g.32376704A>G | GRCh38 |
| NC_000013.10:g.32950841A>G , CM000675.1:g.32950841A>G | GRCh37 |
| NC_000013.9:g.31848841A>G | NCBI36 |
| NG_012772.3:g.66225A>G , LRG_293:g.66225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8667A>G | ENSP00000434898.2:p.Ala2889= | |
| ENST00000528762.2:c.*34A>G | ENSP00000433168.2:n.*34A>G | |
| ENST00000530893.7:c.8298A>G | ENSP00000499438.2:p.Ala2766= | |
| ENST00000665585.2:c.*229A>G | ENSP00000499570.2:n.*229A>G | |
| ENST00000666593.2:c.8667A>G | ENSP00000499256.2:p.Ala2889= | |
| ENST00000700202.2:c.8667A>G | ENSP00000514856.2:p.Ala2889= | |
| ENST00000700202.1:c.1134A>G | ENSP00000514856.1:p.Ala378= | |
| ENST00000700203.1:n.794A>G | ||
| ENST00000380152.8:c.8667A>G MANE Select | ENSP00000369497.3:p.Ala2889= | |
| ENST00000544455.6:c.8667A>G | ENSP00000439902.1:p.Ala2889= | |
| ENST00000614259.2:c.8675A>G | ENSP00000506251.1:n.8675A>G | |
| ENST00000665585.1:c.1545A>G | ||
| ENST00000680887.1:c.8667A>G | ENSP00000505508.1:p.Ala2889= | |
| ENST00000380152.7:c.8667A>G | ENSP00000369497.3:p.Ala2889= | |
| ENST00000528762.1:c.229A>G | ENSP00000433168.1:n.229A>G | |
| ENST00000544455.5:c.8667A>G | ENSP00000439902.1:p.Ala2889= | |
| NM_000059.3:c.8667A>G , LRG_293t1:c.8667A>G | NP_000050.2:p.Ala2889= | |
| XM_011535203.1:c.8667A>G | XP_011533505.1:p.Ala2889= | |
| XM_011535204.1:c.8571A>G | XP_011533506.1:p.Ala2857= | |
| XM_011535205.1:c.8667A>G | XP_011533507.1:p.Ala2889= | |
| NM_000059.4:c.8667A>G MANE Select | NP_000050.3:p.Ala2889= |