Linked Data
ClinVar Variation Id:
2696399
ClinVar RCV Id:
RCV003530385
MyVariant Identifiers:
chr13:g.32972461T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398324T>C , CM000675.2:g.32398324T>C | GRCh38 |
| NC_000013.10:g.32972461T>C , CM000675.1:g.32972461T>C | GRCh37 |
| NC_000013.9:g.31870461T>C | NCBI36 |
| NG_012772.3:g.87845T>C , LRG_293:g.87845T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*334T>C | ENSP00000434898.2:n.*334T>C | |
| ENST00000528762.2:c.*1178T>C | ENSP00000433168.2:n.*1178T>C | |
| ENST00000530893.7:c.9442T>C | ENSP00000499438.2:p.Leu3148= | |
| ENST00000665585.2:c.*1373T>C | ENSP00000499570.2:n.*1373T>C | |
| ENST00000700202.2:c.9760T>C | ENSP00000514856.2:p.Leu3254= | |
| ENST00000700202.1:c.2227T>C | ENSP00000514856.1:p.Leu743= | |
| ENST00000700203.1:n.1938T>C | ||
| ENST00000380152.8:c.9811T>C MANE Select | ENSP00000369497.3:p.Leu3271= | |
| ENST00000544455.6:c.9811T>C | ENSP00000439902.1:p.Leu3271= | |
| ENST00000614259.2:c.9819T>C | ENSP00000506251.1:n.9819T>C | |
| ENST00000680887.1:c.9811T>C | ENSP00000505508.1:p.Leu3271= | |
| ENST00000380152.7:c.9811T>C | ENSP00000369497.3:p.Leu3271= | |
| ENST00000533776.1:n.399T>C | ||
| ENST00000544455.5:c.9811T>C | ENSP00000439902.1:p.Leu3271= | |
| NM_000059.3:c.9811T>C , LRG_293t1:c.9811T>C | NP_000050.2:p.Leu3271= | |
| XM_011535203.1:c.9811T>C | XP_011533505.1:p.Leu3271= | |
| XM_011535204.1:c.9715T>C | XP_011533506.1:p.Leu3239= | |
| NM_000059.4:c.9811T>C MANE Select | NP_000050.3:p.Leu3271= |