Linked Data
ClinVar Variation Id:
1768061
ClinVar RCV Id:
RCV002387083
dbSNP Id:
rs2137663445
MyVariant Identifiers:
chr13:g.32972397T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398260T>C , CM000675.2:g.32398260T>C | GRCh38 |
| NC_000013.10:g.32972397T>C , CM000675.1:g.32972397T>C | GRCh37 |
| NC_000013.9:g.31870397T>C | NCBI36 |
| NG_012772.3:g.87781T>C , LRG_293:g.87781T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*270T>C | ENSP00000434898.2:n.*270T>C | |
| ENST00000528762.2:c.*1114T>C | ENSP00000433168.2:n.*1114T>C | |
| ENST00000530893.7:c.9378T>C | ENSP00000499438.2:p.Thr3126= | |
| ENST00000665585.2:c.*1309T>C | ENSP00000499570.2:n.*1309T>C | |
| ENST00000700202.2:c.9696T>C | ENSP00000514856.2:p.Thr3232= | |
| ENST00000700202.1:c.2163T>C | ENSP00000514856.1:p.Thr721= | |
| ENST00000700203.1:n.1874T>C | ||
| ENST00000380152.8:c.9747T>C MANE Select | ENSP00000369497.3:p.Thr3249= | |
| ENST00000544455.6:c.9747T>C | ENSP00000439902.1:p.Thr3249= | |
| ENST00000614259.2:c.9755T>C | ENSP00000506251.1:n.9755T>C | |
| ENST00000680887.1:c.9747T>C | ENSP00000505508.1:p.Thr3249= | |
| ENST00000380152.7:c.9747T>C | ENSP00000369497.3:p.Thr3249= | |
| ENST00000470094.1:c.830T>C | ||
| ENST00000533776.1:n.335T>C | ||
| ENST00000544455.5:c.9747T>C | ENSP00000439902.1:p.Thr3249= | |
| NM_000059.3:c.9747T>C , LRG_293t1:c.9747T>C | NP_000050.2:p.Thr3249= | |
| XM_011535203.1:c.9747T>C | XP_011533505.1:p.Thr3249= | |
| XM_011535204.1:c.9651T>C | XP_011533506.1:p.Thr3217= | |
| NM_000059.4:c.9747T>C MANE Select | NP_000050.3:p.Thr3249= |