Linked Data
ClinVar Variation Id:
3229435
ClinVar RCV Id:
RCV004525013
dbSNP Id:
rs2137618970
MyVariant Identifiers:
chr13:g.32953462C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379325C>T , CM000675.2:g.32379325C>T | GRCh38 |
| NC_000013.10:g.32953462C>T , CM000675.1:g.32953462C>T | GRCh37 |
| NC_000013.9:g.31851462C>T | NCBI36 |
| NG_012772.3:g.68846C>T , LRG_293:g.68846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8763C>T | ENSP00000434898.2:p.Phe2921= | |
| ENST00000528762.2:c.*130C>T | ENSP00000433168.2:n.*130C>T | |
| ENST00000530893.7:c.8394C>T | ENSP00000499438.2:p.Phe2798= | |
| ENST00000665585.2:c.*325C>T | ENSP00000499570.2:n.*325C>T | |
| ENST00000666593.2:c.8763C>T | ENSP00000499256.2:p.Phe2921= | |
| ENST00000700202.2:c.8763C>T | ENSP00000514856.2:p.Phe2921= | |
| ENST00000700202.1:c.1230C>T | ENSP00000514856.1:p.Phe410= | |
| ENST00000700203.1:n.890C>T | ||
| ENST00000380152.8:c.8763C>T MANE Select | ENSP00000369497.3:p.Phe2921= | |
| ENST00000544455.6:c.8763C>T | ENSP00000439902.1:p.Phe2921= | |
| ENST00000614259.2:c.8771C>T | ENSP00000506251.1:n.8771C>T | |
| ENST00000665585.1:c.1641C>T | ||
| ENST00000680887.1:c.8763C>T | ENSP00000505508.1:p.Phe2921= | |
| ENST00000380152.7:c.8763C>T | ENSP00000369497.3:p.Phe2921= | |
| ENST00000528762.1:c.325C>T | ENSP00000433168.1:n.325C>T | |
| ENST00000544455.5:c.8763C>T | ENSP00000439902.1:p.Phe2921= | |
| NM_000059.3:c.8763C>T , LRG_293t1:c.8763C>T | NP_000050.2:p.Phe2921= | |
| XM_011535203.1:c.8763C>T | XP_011533505.1:p.Phe2921= | |
| XM_011535204.1:c.8667C>T | XP_011533506.1:p.Phe2889= | |
| XM_011535205.1:c.8755-425C>T | XP_011533507.1:n.8755-425C>T | |
| NM_000059.4:c.8763C>T MANE Select | NP_000050.3:p.Phe2921= |