Linked Data
ClinVar Variation Id:
418592
dbSNP Id:
rs773533016
ExAC:
13:32954242 G / A
gnomAD v2:
13-32954242-G-A
gnomAD v4:
13-32380105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380105G>A , CM000675.2:g.32380105G>A | GRCh38 |
| NC_000013.10:g.32954242G>A , CM000675.1:g.32954242G>A | GRCh37 |
| NC_000013.9:g.31852242G>A | NCBI36 |
| NG_012772.3:g.69626G>A , LRG_293:g.69626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9216G>A | ENSP00000434898.2:p.Val3072= | |
| ENST00000528762.2:c.*583G>A | ENSP00000433168.2:n.*583G>A | |
| ENST00000530893.7:c.8847G>A | ENSP00000499438.2:p.Val2949= | |
| ENST00000665585.2:c.*778G>A | ENSP00000499570.2:n.*778G>A | |
| ENST00000666593.2:c.9216G>A | ENSP00000499256.2:p.Val3072= | |
| ENST00000700202.2:c.9165G>A | ENSP00000514856.2:p.Val3055= | |
| ENST00000700202.1:c.1632G>A | ENSP00000514856.1:p.Val544= | |
| ENST00000700203.1:n.1343G>A | ||
| ENST00000380152.8:c.9216G>A MANE Select | ENSP00000369497.3:p.Val3072= | |
| ENST00000544455.6:c.9216G>A | ENSP00000439902.1:p.Val3072= | |
| ENST00000614259.2:c.9224G>A | ENSP00000506251.1:n.9224G>A | |
| ENST00000665585.1:c.2094G>A | ||
| ENST00000666593.1:c.99G>A | ENSP00000499256.1:p.Val33= | |
| ENST00000680887.1:c.9216G>A | ENSP00000505508.1:p.Val3072= | |
| ENST00000380152.7:c.9216G>A | ENSP00000369497.3:p.Val3072= | |
| ENST00000470094.1:c.173G>A | ||
| ENST00000544455.5:c.9216G>A | ENSP00000439902.1:p.Val3072= | |
| NM_000059.3:c.9216G>A , LRG_293t1:c.9216G>A | NP_000050.2:p.Val3072= | |
| XM_011535203.1:c.9216G>A | XP_011533505.1:p.Val3072= | |
| XM_011535204.1:c.9120G>A | XP_011533506.1:p.Val3040= | |
| NM_000059.4:c.9216G>A MANE Select | NP_000050.3:p.Val3072= |