Linked Data
ClinVar Variation Id:
1768026
dbSNP Id:
rs2137663318
MyVariant Identifiers:
chr13:g.32972382C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398245C>T , CM000675.2:g.32398245C>T | GRCh38 |
| NC_000013.10:g.32972382C>T , CM000675.1:g.32972382C>T | GRCh37 |
| NC_000013.9:g.31870382C>T | NCBI36 |
| NG_012772.3:g.87766C>T , LRG_293:g.87766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*255C>T | ENSP00000434898.2:n.*255C>T | |
| ENST00000528762.2:c.*1099C>T | ENSP00000433168.2:n.*1099C>T | |
| ENST00000530893.7:c.9363C>T | ENSP00000499438.2:p.Val3121= | |
| ENST00000665585.2:c.*1294C>T | ENSP00000499570.2:n.*1294C>T | |
| ENST00000700202.2:c.9681C>T | ENSP00000514856.2:p.Val3227= | |
| ENST00000700202.1:c.2148C>T | ENSP00000514856.1:p.Val716= | |
| ENST00000700203.1:n.1859C>T | ||
| ENST00000380152.8:c.9732C>T MANE Select | ENSP00000369497.3:p.Val3244= | |
| ENST00000544455.6:c.9732C>T | ENSP00000439902.1:p.Val3244= | |
| ENST00000614259.2:c.9740C>T | ENSP00000506251.1:n.9740C>T | |
| ENST00000680887.1:c.9732C>T | ENSP00000505508.1:p.Val3244= | |
| ENST00000380152.7:c.9732C>T | ENSP00000369497.3:p.Val3244= | |
| ENST00000470094.1:c.815C>T | ||
| ENST00000533776.1:n.320C>T | ||
| ENST00000544455.5:c.9732C>T | ENSP00000439902.1:p.Val3244= | |
| NM_000059.3:c.9732C>T , LRG_293t1:c.9732C>T | NP_000050.2:p.Val3244= | |
| XM_011535203.1:c.9732C>T | XP_011533505.1:p.Val3244= | |
| XM_011535204.1:c.9636C>T | XP_011533506.1:p.Val3212= | |
| NM_000059.4:c.9732C>T MANE Select | NP_000050.3:p.Val3244= |