Linked Data
ClinVar Variation Id:
52779
ClinVar RCV Id:
RCV000045750
RCV000077464
RCV000130237
RCV000326170
RCV000656811
RCV000765143
RCV001114168
dbSNP Id:
rs80359186
ExAC:
13:32954244 A / G
gnomAD v2:
13-32954244-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380107A>G , CM000675.2:g.32380107A>G | GRCh38 |
| NC_000013.10:g.32954244A>G , CM000675.1:g.32954244A>G | GRCh37 |
| NC_000013.9:g.31852244A>G | NCBI36 |
| NG_012772.3:g.69628A>G , LRG_293:g.69628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9218A>G | ENSP00000434898.2:p.Asp3073Gly | |
| ENST00000528762.2:c.*585A>G | ENSP00000433168.2:n.*585A>G | |
| ENST00000530893.7:c.8849A>G | ENSP00000499438.2:p.Asp2950Gly | |
| ENST00000665585.2:c.*780A>G | ENSP00000499570.2:n.*780A>G | |
| ENST00000666593.2:c.9218A>G | ENSP00000499256.2:p.Asp3073Gly | |
| ENST00000700202.2:c.9167A>G | ENSP00000514856.2:p.Asp3056Gly | |
| ENST00000700202.1:c.1634A>G | ENSP00000514856.1:p.Asp545Gly | |
| ENST00000700203.1:n.1345A>G | ||
| ENST00000380152.8:c.9218A>G MANE Select | ENSP00000369497.3:p.Asp3073Gly | |
| ENST00000544455.6:c.9218A>G | ENSP00000439902.1:p.Asp3073Gly | |
| ENST00000614259.2:c.9226A>G | ENSP00000506251.1:n.9226A>G | |
| ENST00000665585.1:c.2096A>G | ||
| ENST00000666593.1:c.101A>G | ENSP00000499256.1:p.Asp34Gly | |
| ENST00000680887.1:c.9218A>G | ENSP00000505508.1:p.Asp3073Gly | |
| ENST00000380152.7:c.9218A>G | ENSP00000369497.3:p.Asp3073Gly | |
| ENST00000470094.1:c.175A>G | ||
| ENST00000544455.5:c.9218A>G | ENSP00000439902.1:p.Asp3073Gly | |
| NM_000059.3:c.9218A>G , LRG_293t1:c.9218A>G | NP_000050.2:p.Asp3073Gly | |
| XM_011535203.1:c.9218A>G | XP_011533505.1:p.Asp3073Gly | |
| XM_011535204.1:c.9122A>G | XP_011533506.1:p.Asp3041Gly | |
| NM_000059.4:c.9218A>G MANE Select | NP_000050.3:p.Asp3073Gly |