Linked Data
ClinVar Variation Id:
38183
ClinVar RCV Id:
RCV000031766
RCV000131043
RCV000220836
RCV000238986
RCV001310186
RCV001357980
RCV001391220
RCV001529355
RCV003473223
dbSNP Id:
rs81002812
gnomAD v4:
13-32379316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379316G>A , CM000675.2:g.32379316G>A | GRCh38 |
| NC_000013.10:g.32953453G>A , CM000675.1:g.32953453G>A | GRCh37 |
| NC_000013.9:g.31851453G>A | NCBI36 |
| NG_012772.3:g.68837G>A , LRG_293:g.68837G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8755-1G>A | ENSP00000434898.2:n.8755-1G>A | |
| ENST00000528762.2:c.*122-1G>A | ENSP00000433168.2:n.*122-1G>A | |
| ENST00000530893.7:c.8386-1G>A | ENSP00000499438.2:n.8386-1G>A | |
| ENST00000665585.2:c.*317-1G>A | ENSP00000499570.2:n.*317-1G>A | |
| ENST00000666593.2:c.8755-1G>A | ENSP00000499256.2:n.8755-1G>A | |
| ENST00000700202.2:c.8755-1G>A | ENSP00000514856.2:n.8755-1G>A | |
| ENST00000700202.1:c.1222-1G>A | ENSP00000514856.1:n.1222-1G>A | |
| ENST00000700203.1:n.882-1G>A | ||
| ENST00000380152.8:c.8755-1G>A MANE Select | ENSP00000369497.3:n.8755-1G>A | |
| ENST00000544455.6:c.8755-1G>A | ENSP00000439902.1:n.8755-1G>A | |
| ENST00000614259.2:c.8763-1G>A | ENSP00000506251.1:n.8763-1G>A | |
| ENST00000665585.1:c.1633-1G>A | ||
| ENST00000680887.1:c.8755-1G>A | ENSP00000505508.1:n.8755-1G>A | |
| ENST00000380152.7:c.8755-1G>A | ENSP00000369497.3:n.8755-1G>A | |
| ENST00000528762.1:c.317-1G>A | ENSP00000433168.1:n.317-1G>A | |
| ENST00000544455.5:c.8755-1G>A | ENSP00000439902.1:n.8755-1G>A | |
| NM_000059.3:c.8755-1G>A , LRG_293t1:c.8755-1G>A | NP_000050.2:n.8755-1G>A | |
| XM_011535203.1:c.8755-1G>A | XP_011533505.1:n.8755-1G>A | |
| XM_011535204.1:c.8659-1G>A | XP_011533506.1:n.8659-1G>A | |
| XM_011535205.1:c.8755-434G>A | XP_011533507.1:n.8755-434G>A | |
| NM_000059.4:c.8755-1G>A MANE Select | NP_000050.3:n.8755-1G>A |