Linked Data
ClinVar Variation Id:
462490
dbSNP Id:
rs1401510742
gnomAD v2:
13-32950846-C-G
gnomAD v4:
13-32376709-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376709C>G , CM000675.2:g.32376709C>G | GRCh38 |
| NC_000013.10:g.32950846C>G , CM000675.1:g.32950846C>G | GRCh37 |
| NC_000013.9:g.31848846C>G | NCBI36 |
| NG_012772.3:g.66230C>G , LRG_293:g.66230C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8672C>G | ENSP00000434898.2:p.Thr2891Arg | |
| ENST00000528762.2:c.*39C>G | ENSP00000433168.2:n.*39C>G | |
| ENST00000530893.7:c.8303C>G | ENSP00000499438.2:p.Thr2768Arg | |
| ENST00000665585.2:c.*234C>G | ENSP00000499570.2:n.*234C>G | |
| ENST00000666593.2:c.8672C>G | ENSP00000499256.2:p.Thr2891Arg | |
| ENST00000700202.2:c.8672C>G | ENSP00000514856.2:p.Thr2891Arg | |
| ENST00000700202.1:c.1139C>G | ENSP00000514856.1:p.Thr380Arg | |
| ENST00000700203.1:n.799C>G | ||
| ENST00000380152.8:c.8672C>G MANE Select | ENSP00000369497.3:p.Thr2891Arg | |
| ENST00000544455.6:c.8672C>G | ENSP00000439902.1:p.Thr2891Arg | |
| ENST00000614259.2:c.8680C>G | ENSP00000506251.1:n.8680C>G | |
| ENST00000665585.1:c.1550C>G | ||
| ENST00000680887.1:c.8672C>G | ENSP00000505508.1:p.Thr2891Arg | |
| ENST00000380152.7:c.8672C>G | ENSP00000369497.3:p.Thr2891Arg | |
| ENST00000528762.1:c.234C>G | ENSP00000433168.1:n.234C>G | |
| ENST00000544455.5:c.8672C>G | ENSP00000439902.1:p.Thr2891Arg | |
| NM_000059.3:c.8672C>G , LRG_293t1:c.8672C>G | NP_000050.2:p.Thr2891Arg | |
| XM_011535203.1:c.8672C>G | XP_011533505.1:p.Thr2891Arg | |
| XM_011535204.1:c.8576C>G | XP_011533506.1:p.Thr2859Arg | |
| XM_011535205.1:c.8672C>G | XP_011533507.1:p.Thr2891Arg | |
| NM_000059.4:c.8672C>G MANE Select | NP_000050.3:p.Thr2891Arg |