Linked Data
ClinVar Variation Id:
1768150
dbSNP Id:
rs2137663715
gnomAD v4:
13-32398287-G-A
MyVariant Identifiers:
chr13:g.32972424G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398287G>A , CM000675.2:g.32398287G>A | GRCh38 |
| NC_000013.10:g.32972424G>A , CM000675.1:g.32972424G>A | GRCh37 |
| NC_000013.9:g.31870424G>A | NCBI36 |
| NG_012772.3:g.87808G>A , LRG_293:g.87808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*297G>A | ENSP00000434898.2:n.*297G>A | |
| ENST00000528762.2:c.*1141G>A | ENSP00000433168.2:n.*1141G>A | |
| ENST00000530893.7:c.9405G>A | ENSP00000499438.2:p.Glu3135= | |
| ENST00000665585.2:c.*1336G>A | ENSP00000499570.2:n.*1336G>A | |
| ENST00000700202.2:c.9723G>A | ENSP00000514856.2:p.Glu3241= | |
| ENST00000700202.1:c.2190G>A | ENSP00000514856.1:p.Glu730= | |
| ENST00000700203.1:n.1901G>A | ||
| ENST00000380152.8:c.9774G>A MANE Select | ENSP00000369497.3:p.Glu3258= | |
| ENST00000544455.6:c.9774G>A | ENSP00000439902.1:p.Glu3258= | |
| ENST00000614259.2:c.9782G>A | ENSP00000506251.1:n.9782G>A | |
| ENST00000680887.1:c.9774G>A | ENSP00000505508.1:p.Glu3258= | |
| ENST00000380152.7:c.9774G>A | ENSP00000369497.3:p.Glu3258= | |
| ENST00000533776.1:n.362G>A | ||
| ENST00000544455.5:c.9774G>A | ENSP00000439902.1:p.Glu3258= | |
| NM_000059.3:c.9774G>A , LRG_293t1:c.9774G>A | NP_000050.2:p.Glu3258= | |
| XM_011535203.1:c.9774G>A | XP_011533505.1:p.Glu3258= | |
| XM_011535204.1:c.9678G>A | XP_011533506.1:p.Glu3226= | |
| NM_000059.4:c.9774G>A MANE Select | NP_000050.3:p.Glu3258= |