Linked Data
ClinVar Variation Id:
52890
ClinVar RCV Id:
RCV000045885
RCV000114153
RCV000165822
RCV000369165
RCV001175465
RCV003473437
RCV004537214
dbSNP Id:
rs80359237
ExAC:
13:32972327 A / G
gnomAD v2:
13-32972327-A-G
gnomAD v3:
13-32398190-A-G
gnomAD v4:
13-32398190-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398190A>G , CM000675.2:g.32398190A>G | GRCh38 |
| NC_000013.10:g.32972327A>G , CM000675.1:g.32972327A>G | GRCh37 |
| NC_000013.9:g.31870327A>G | NCBI36 |
| NG_012772.3:g.87711A>G , LRG_293:g.87711A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*200A>G | ENSP00000434898.2:n.*200A>G | |
| ENST00000528762.2:c.*1044A>G | ENSP00000433168.2:n.*1044A>G | |
| ENST00000530893.7:c.9308A>G | ENSP00000499438.2:p.Tyr3103Cys | |
| ENST00000665585.2:c.*1239A>G | ENSP00000499570.2:n.*1239A>G | |
| ENST00000700202.2:c.9626A>G | ENSP00000514856.2:p.Tyr3209Cys | |
| ENST00000700202.1:c.2093A>G | ENSP00000514856.1:p.Tyr698Cys | |
| ENST00000700203.1:n.1804A>G | ||
| ENST00000380152.8:c.9677A>G MANE Select | ENSP00000369497.3:p.Tyr3226Cys | |
| ENST00000544455.6:c.9677A>G | ENSP00000439902.1:p.Tyr3226Cys | |
| ENST00000614259.2:c.9685A>G | ENSP00000506251.1:n.9685A>G | |
| ENST00000665585.1:c.2555A>G | ||
| ENST00000680887.1:c.9677A>G | ENSP00000505508.1:p.Tyr3226Cys | |
| ENST00000380152.7:c.9677A>G | ENSP00000369497.3:p.Tyr3226Cys | |
| ENST00000470094.1:c.760A>G | ||
| ENST00000533776.1:n.265A>G | ||
| ENST00000544455.5:c.9677A>G | ENSP00000439902.1:p.Tyr3226Cys | |
| NM_000059.3:c.9677A>G , LRG_293t1:c.9677A>G | NP_000050.2:p.Tyr3226Cys | |
| XM_011535203.1:c.9677A>G | XP_011533505.1:p.Tyr3226Cys | |
| XM_011535204.1:c.9581A>G | XP_011533506.1:p.Tyr3194Cys | |
| NM_000059.4:c.9677A>G MANE Select | NP_000050.3:p.Tyr3226Cys |