Linked Data
ClinVar Variation Id:
52418
ClinVar RCV Id:
RCV000045321
RCV000077414
RCV000131088
RCV000414989
RCV001281729
RCV001310176
RCV003473407
dbSNP Id:
rs81002836
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32362521A>G , CM000675.2:g.32362521A>G | GRCh38 |
| NC_000013.10:g.32936658A>G , CM000675.1:g.32936658A>G | GRCh37 |
| NC_000013.9:g.31834658A>G | NCBI36 |
| NG_012772.3:g.52042A>G , LRG_293:g.52042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7806-2A>G | ENSP00000434898.2:n.7806-2A>G | |
| ENST00000528762.2:c.7806-2A>G | ENSP00000433168.2:n.7806-2A>G | |
| ENST00000530893.7:c.7437-2A>G | ENSP00000499438.2:n.7437-2A>G | |
| ENST00000665585.2:c.7806-2A>G | ENSP00000499570.2:n.7806-2A>G | |
| ENST00000666593.2:c.7806-2A>G | ENSP00000499256.2:n.7806-2A>G | |
| ENST00000700202.2:c.7806-2A>G | ENSP00000514856.2:n.7806-2A>G | |
| ENST00000700202.1:c.273-2A>G | ENSP00000514856.1:n.273-2A>G | |
| ENST00000380152.8:c.7806-2A>G MANE Select | ENSP00000369497.3:n.7806-2A>G | |
| ENST00000544455.6:c.7806-2A>G | ENSP00000439902.1:n.7806-2A>G | |
| ENST00000614259.2:c.7812A>G | ENSP00000506251.1:p.Ser2604= | |
| ENST00000665585.1:c.371-2A>G | ||
| ENST00000680887.1:c.7806-2A>G | ENSP00000505508.1:n.7806-2A>G | |
| ENST00000380152.7:c.7806-2A>G | ENSP00000369497.3:n.7806-2A>G | |
| ENST00000544455.5:c.7806-2A>G | ENSP00000439902.1:n.7806-2A>G | |
| ENST00000614259.1:n.7812A>G | ||
| NM_000059.3:c.7806-2A>G , LRG_293t1:c.7806-2A>G | NP_000050.2:n.7806-2A>G | |
| XM_011535203.1:c.7806-2A>G | XP_011533505.1:n.7806-2A>G | |
| XM_011535204.1:c.7710-2A>G | XP_011533506.1:n.7710-2A>G | |
| XM_011535205.1:c.7806-2A>G | XP_011533507.1:n.7806-2A>G | |
| NM_000059.4:c.7806-2A>G MANE Select | NP_000050.3:n.7806-2A>G |