Linked Data
ClinVar Variation Id:
928574
ClinVar RCV Id:
RCV001192688
dbSNP Id:
rs2072907140
MyVariant Identifiers:
chr13:g.32953888T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379751T>C , CM000675.2:g.32379751T>C | GRCh38 |
| NC_000013.10:g.32953888T>C , CM000675.1:g.32953888T>C | GRCh37 |
| NC_000013.9:g.31851888T>C | NCBI36 |
| NG_012772.3:g.69272T>C , LRG_293:g.69272T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8955T>C | ENSP00000434898.2:p.Val2985= | |
| ENST00000528762.2:c.*322T>C | ENSP00000433168.2:n.*322T>C | |
| ENST00000530893.7:c.8586T>C | ENSP00000499438.2:p.Val2862= | |
| ENST00000665585.2:c.*517T>C | ENSP00000499570.2:n.*517T>C | |
| ENST00000666593.2:c.8955T>C | ENSP00000499256.2:p.Val2985= | |
| ENST00000700202.2:c.8954-50T>C | ENSP00000514856.2:n.8954-50T>C | |
| ENST00000700202.1:c.1421-50T>C | ENSP00000514856.1:n.1421-50T>C | |
| ENST00000700203.1:n.1082T>C | ||
| ENST00000380152.8:c.8955T>C MANE Select | ENSP00000369497.3:p.Val2985= | |
| ENST00000544455.6:c.8955T>C | ENSP00000439902.1:p.Val2985= | |
| ENST00000614259.2:c.8963T>C | ENSP00000506251.1:n.8963T>C | |
| ENST00000665585.1:c.1833T>C | ||
| ENST00000680887.1:c.8955T>C | ENSP00000505508.1:p.Val2985= | |
| ENST00000380152.7:c.8955T>C | ENSP00000369497.3:p.Val2985= | |
| ENST00000544455.5:c.8955T>C | ENSP00000439902.1:p.Val2985= | |
| NM_000059.3:c.8955T>C , LRG_293t1:c.8955T>C | NP_000050.2:p.Val2985= | |
| XM_011535203.1:c.8955T>C | XP_011533505.1:p.Val2985= | |
| XM_011535204.1:c.8859T>C | XP_011533506.1:p.Val2953= | |
| XM_011535205.1:c.8756T>C | XP_011533507.1:p.Leu2919Ser | |
| NM_000059.4:c.8955T>C MANE Select | NP_000050.3:p.Val2985= |