Linked Data
ClinVar Variation Id:
142398
dbSNP Id:
rs587782435
ExAC:
13:32971126 G / A
gnomAD v2:
13-32971126-G-A
gnomAD v4:
13-32396989-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32396989G>A , CM000675.2:g.32396989G>A | GRCh38 |
| NC_000013.10:g.32971126G>A , CM000675.1:g.32971126G>A | GRCh37 |
| NC_000013.9:g.31869126G>A | NCBI36 |
| NG_012772.3:g.86510G>A , LRG_293:g.86510G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*116G>A | ENSP00000434898.2:n.*116G>A | |
| ENST00000528762.2:c.*960G>A | ENSP00000433168.2:n.*960G>A | |
| ENST00000530893.7:c.9224G>A | ENSP00000499438.2:p.Cys3075Tyr | |
| ENST00000665585.2:c.*1155G>A | ENSP00000499570.2:n.*1155G>A | |
| ENST00000700202.2:c.9542G>A | ENSP00000514856.2:p.Cys3181Tyr | |
| ENST00000700202.1:c.2009G>A | ENSP00000514856.1:p.Cys670Tyr | |
| ENST00000700203.1:n.1720G>A | ||
| ENST00000380152.8:c.9593G>A MANE Select | ENSP00000369497.3:p.Cys3198Tyr | |
| ENST00000544455.6:c.9593G>A | ENSP00000439902.1:p.Cys3198Tyr | |
| ENST00000614259.2:c.9601G>A | ENSP00000506251.1:n.9601G>A | |
| ENST00000665585.1:c.2471G>A | ||
| ENST00000680887.1:c.9593G>A | ENSP00000505508.1:p.Cys3198Tyr | |
| ENST00000380152.7:c.9593G>A | ENSP00000369497.3:p.Cys3198Tyr | |
| ENST00000470094.1:c.676G>A | ||
| ENST00000533776.1:n.181G>A | ||
| ENST00000544455.5:c.9593G>A | ENSP00000439902.1:p.Cys3198Tyr | |
| NM_000059.3:c.9593G>A , LRG_293t1:c.9593G>A | NP_000050.2:p.Cys3198Tyr | |
| XM_011535203.1:c.9593G>A | XP_011533505.1:p.Cys3198Tyr | |
| XM_011535204.1:c.9497G>A | XP_011533506.1:p.Cys3166Tyr | |
| NM_000059.4:c.9593G>A MANE Select | NP_000050.3:p.Cys3198Tyr |