Linked Data
ClinVar Variation Id:
52916
ClinVar RCV Id:
RCV000045914
RCV000077479
RCV000221171
RCV000131045
RCV000768644
RCV001354074
RCV003460638
dbSNP Id:
rs4987049
ExAC:
13:32972574 C / G
gnomAD v2:
13-32972574-C-G
gnomAD v3:
13-32398437-C-G
gnomAD v4:
13-32398437-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398437C>G , CM000675.2:g.32398437C>G | GRCh38 |
| NC_000013.10:g.32972574C>G , CM000675.1:g.32972574C>G | GRCh37 |
| NC_000013.9:g.31870574C>G | NCBI36 |
| NG_012772.3:g.87958C>G , LRG_293:g.87958C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*447C>G | ENSP00000434898.2:n.*447C>G | |
| ENST00000528762.2:c.*1291C>G | ENSP00000433168.2:n.*1291C>G | |
| ENST00000530893.7:c.9555C>G | ENSP00000499438.2:p.Tyr3185Ter | |
| ENST00000665585.2:c.*1486C>G | ENSP00000499570.2:n.*1486C>G | |
| ENST00000700202.2:c.9873C>G | ENSP00000514856.2:p.Tyr3291Ter | |
| ENST00000700202.1:c.2340C>G | ENSP00000514856.1:p.Tyr780Ter | |
| ENST00000700203.1:n.2051C>G | ||
| ENST00000380152.8:c.9924C>G MANE Select | ENSP00000369497.3:p.Tyr3308Ter | |
| ENST00000544455.6:c.9924C>G | ENSP00000439902.1:p.Tyr3308Ter | |
| ENST00000614259.2:c.9932C>G | ENSP00000506251.1:n.9932C>G | |
| ENST00000680887.1:c.9924C>G | ENSP00000505508.1:p.Tyr3308Ter | |
| ENST00000380152.7:c.9924C>G | ENSP00000369497.3:p.Tyr3308Ter | |
| ENST00000533776.1:n.512C>G | ||
| ENST00000544455.5:c.9924C>G | ENSP00000439902.1:p.Tyr3308Ter | |
| NM_000059.3:c.9924C>G , LRG_293t1:c.9924C>G | NP_000050.2:p.Tyr3308Ter | |
| XM_011535203.1:c.9924C>G | XP_011533505.1:p.Tyr3308Ter | |
| XM_011535204.1:c.9828C>G | XP_011533506.1:p.Tyr3276Ter | |
| NM_000059.4:c.9924C>G MANE Select | NP_000050.3:p.Tyr3308Ter |