ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398677A>G , CM000675.2:g.32398677A>G | GRCh38 |
| NC_000013.10:g.32972814A>G , CM000675.1:g.32972814A>G | GRCh37 |
| NC_000013.9:g.31870814A>G | NCBI36 |
| NG_012772.3:g.88198A>G , LRG_293:g.88198A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*687A>G | ENSP00000434898.2:n.*687A>G | |
| ENST00000528762.2:c.*1531A>G | ENSP00000433168.2:n.*1531A>G | |
| ENST00000530893.7:c.9795A>G | ENSP00000499438.2:p.Thr3265= | |
| ENST00000665585.2:c.*1726A>G | ENSP00000499570.2:n.*1726A>G | |
| ENST00000700202.2:c.10113A>G | ENSP00000514856.2:p.Thr3371= | |
| ENST00000700202.1:c.2580A>G | ENSP00000514856.1:p.Thr860= | |
| ENST00000700203.1:n.2291A>G | ||
| ENST00000380152.8:c.10164A>G MANE Select | ENSP00000369497.3:p.Thr3388= | |
| ENST00000544455.6:c.10164A>G | ENSP00000439902.1:p.Thr3388= | |
| ENST00000614259.2:c.10172A>G | ENSP00000506251.1:n.10172A>G | |
| ENST00000680887.1:c.10164A>G | ENSP00000505508.1:p.Thr3388= | |
| ENST00000380152.7:c.10164A>G | ENSP00000369497.3:p.Thr3388= | |
| ENST00000544455.5:c.10164A>G | ENSP00000439902.1:p.Thr3388= | |
| NM_000059.3:c.10164A>G , LRG_293t1:c.10164A>G | NP_000050.2:p.Thr3388= | |
| XM_011535203.1:c.10164A>G | XP_011533505.1:p.Thr3388= | |
| XM_011535204.1:c.10068A>G | XP_011533506.1:p.Thr3356= | |
| NM_000059.4:c.10164A>G MANE Select | NP_000050.3:p.Thr3388= |