Linked Data
ClinVar Variation Id:
41540
ClinVar RCV Id:
RCV000034426
RCV000112853
RCV000120373
RCV000130982
RCV000267039
RCV000361728
RCV000414645
RCV000460200
RCV000769708
RCV001353766
RCV002477053
dbSNP Id:
rs1801426
ExAC:
13:32972884 A / G
gnomAD v2:
13-32972884-A-G
gnomAD v3:
13-32398747-A-G
gnomAD v4:
13-32398747-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398747A>G , CM000675.2:g.32398747A>G | GRCh38 |
| NC_000013.10:g.32972884A>G , CM000675.1:g.32972884A>G | GRCh37 |
| NC_000013.9:g.31870884A>G | NCBI36 |
| NG_012772.3:g.88268A>G , LRG_293:g.88268A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*757A>G | ENSP00000434898.2:n.*757A>G | |
| ENST00000528762.2:c.*1601A>G | ENSP00000433168.2:n.*1601A>G | |
| ENST00000530893.7:c.9865A>G | ENSP00000499438.2:p.Ile3289Val | |
| ENST00000665585.2:c.*1796A>G | ENSP00000499570.2:n.*1796A>G | |
| ENST00000700202.2:c.10183A>G | ENSP00000514856.2:p.Ile3395Val | |
| ENST00000700202.1:c.2650A>G | ENSP00000514856.1:p.Ile884Val | |
| ENST00000700203.1:n.2361A>G | ||
| ENST00000380152.8:c.10234A>G MANE Select | ENSP00000369497.3:p.Ile3412Val | |
| ENST00000544455.6:c.10234A>G | ENSP00000439902.1:p.Ile3412Val | |
| ENST00000614259.2:c.10242A>G | ENSP00000506251.1:n.10242A>G | |
| ENST00000680887.1:c.10234A>G | ENSP00000505508.1:p.Ile3412Val | |
| ENST00000380152.7:c.10234A>G | ENSP00000369497.3:p.Ile3412Val | |
| ENST00000544455.5:c.10234A>G | ENSP00000439902.1:p.Ile3412Val | |
| NM_000059.3:c.10234A>G , LRG_293t1:c.10234A>G | NP_000050.2:p.Ile3412Val | |
| XM_011535203.1:c.10234A>G | XP_011533505.1:p.Ile3412Val | |
| XM_011535204.1:c.10138A>G | XP_011533506.1:p.Ile3380Val | |
| NM_000059.4:c.10234A>G MANE Select | NP_000050.3:p.Ile3412Val |