Linked Data
ClinVar Variation Id:
921305
dbSNP Id:
rs1566261458
gnomAD v4:
13-32398656-A-G
MyVariant Identifiers:
chr13:g.32972793A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398656A>G , CM000675.2:g.32398656A>G | GRCh38 |
| NC_000013.10:g.32972793A>G , CM000675.1:g.32972793A>G | GRCh37 |
| NC_000013.9:g.31870793A>G | NCBI36 |
| NG_012772.3:g.88177A>G , LRG_293:g.88177A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*666A>G | ENSP00000434898.2:n.*666A>G | |
| ENST00000528762.2:c.*1510A>G | ENSP00000433168.2:n.*1510A>G | |
| ENST00000530893.7:c.9774A>G | ENSP00000499438.2:p.Arg3258= | |
| ENST00000665585.2:c.*1705A>G | ENSP00000499570.2:n.*1705A>G | |
| ENST00000700202.2:c.10092A>G | ENSP00000514856.2:p.Arg3364= | |
| ENST00000700202.1:c.2559A>G | ENSP00000514856.1:p.Arg853= | |
| ENST00000700203.1:n.2270A>G | ||
| ENST00000380152.8:c.10143A>G MANE Select | ENSP00000369497.3:p.Arg3381= | |
| ENST00000544455.6:c.10143A>G | ENSP00000439902.1:p.Arg3381= | |
| ENST00000614259.2:c.10151A>G | ENSP00000506251.1:n.10151A>G | |
| ENST00000680887.1:c.10143A>G | ENSP00000505508.1:p.Arg3381= | |
| ENST00000380152.7:c.10143A>G | ENSP00000369497.3:p.Arg3381= | |
| ENST00000544455.5:c.10143A>G | ENSP00000439902.1:p.Arg3381= | |
| NM_000059.3:c.10143A>G , LRG_293t1:c.10143A>G | NP_000050.2:p.Arg3381= | |
| XM_011535203.1:c.10143A>G | XP_011533505.1:p.Arg3381= | |
| XM_011535204.1:c.10047A>G | XP_011533506.1:p.Arg3349= | |
| NM_000059.4:c.10143A>G MANE Select | NP_000050.3:p.Arg3381= |