Linked Data
ClinVar Variation Id:
52872
dbSNP Id:
rs80359227
ExAC:
13:32971116 A / G
gnomAD v2:
13-32971116-A-G
gnomAD v3:
13-32396979-A-G
gnomAD v4:
13-32396979-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32396979A>G , CM000675.2:g.32396979A>G | GRCh38 |
| NC_000013.10:g.32971116A>G , CM000675.1:g.32971116A>G | GRCh37 |
| NC_000013.9:g.31869116A>G | NCBI36 |
| NG_012772.3:g.86500A>G , LRG_293:g.86500A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*106A>G | ENSP00000434898.2:n.*106A>G | |
| ENST00000528762.2:c.*950A>G | ENSP00000433168.2:n.*950A>G | |
| ENST00000530893.7:c.9214A>G | ENSP00000499438.2:p.Thr3072Ala | |
| ENST00000665585.2:c.*1145A>G | ENSP00000499570.2:n.*1145A>G | |
| ENST00000700202.2:c.9532A>G | ENSP00000514856.2:p.Thr3178Ala | |
| ENST00000700202.1:c.1999A>G | ENSP00000514856.1:p.Thr667Ala | |
| ENST00000700203.1:n.1710A>G | ||
| ENST00000380152.8:c.9583A>G MANE Select | ENSP00000369497.3:p.Thr3195Ala | |
| ENST00000544455.6:c.9583A>G | ENSP00000439902.1:p.Thr3195Ala | |
| ENST00000614259.2:c.9591A>G | ENSP00000506251.1:n.9591A>G | |
| ENST00000665585.1:c.2461A>G | ||
| ENST00000680887.1:c.9583A>G | ENSP00000505508.1:p.Thr3195Ala | |
| ENST00000380152.7:c.9583A>G | ENSP00000369497.3:p.Thr3195Ala | |
| ENST00000470094.1:c.666A>G | ||
| ENST00000533776.1:n.171A>G | ||
| ENST00000544455.5:c.9583A>G | ENSP00000439902.1:p.Thr3195Ala | |
| NM_000059.3:c.9583A>G , LRG_293t1:c.9583A>G | NP_000050.2:p.Thr3195Ala | |
| XM_011535203.1:c.9583A>G | XP_011533505.1:p.Thr3195Ala | |
| XM_011535204.1:c.9487A>G | XP_011533506.1:p.Thr3163Ala | |
| NM_000059.4:c.9583A>G MANE Select | NP_000050.3:p.Thr3195Ala |