Linked Data
ClinVar Variation Id:
52878
dbSNP Id:
rs80359809
gnomAD v3:
13-32397042-C-T
gnomAD v4:
13-32397042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32397042C>T , CM000675.2:g.32397042C>T | GRCh38 |
| NC_000013.10:g.32971179C>T , CM000675.1:g.32971179C>T | GRCh37 |
| NC_000013.9:g.31869179C>T | NCBI36 |
| NG_012772.3:g.86563C>T , LRG_293:g.86563C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*169C>T | ENSP00000434898.2:n.*169C>T | |
| ENST00000528762.2:c.*1013C>T | ENSP00000433168.2:n.*1013C>T | |
| ENST00000530893.7:c.9277C>T | ENSP00000499438.2:p.Leu3093= | |
| ENST00000665585.2:c.*1208C>T | ENSP00000499570.2:n.*1208C>T | |
| ENST00000700202.2:c.9595C>T | ENSP00000514856.2:p.Leu3199= | |
| ENST00000700202.1:c.2062C>T | ENSP00000514856.1:p.Leu688= | |
| ENST00000700203.1:n.1773C>T | ||
| ENST00000380152.8:c.9646C>T MANE Select | ENSP00000369497.3:p.Leu3216= | |
| ENST00000544455.6:c.9646C>T | ENSP00000439902.1:p.Leu3216= | |
| ENST00000614259.2:c.9654C>T | ENSP00000506251.1:n.9654C>T | |
| ENST00000665585.1:c.2524C>T | ||
| ENST00000680887.1:c.9646C>T | ENSP00000505508.1:p.Leu3216= | |
| ENST00000380152.7:c.9646C>T | ENSP00000369497.3:p.Leu3216= | |
| ENST00000470094.1:c.729C>T | ||
| ENST00000533776.1:n.234C>T | ||
| ENST00000544455.5:c.9646C>T | ENSP00000439902.1:p.Leu3216= | |
| NM_000059.3:c.9646C>T , LRG_293t1:c.9646C>T | NP_000050.2:p.Leu3216= | |
| XM_011535203.1:c.9646C>T | XP_011533505.1:p.Leu3216= | |
| XM_011535204.1:c.9550C>T | XP_011533506.1:p.Leu3184= | |
| NM_000059.4:c.9646C>T MANE Select | NP_000050.3:p.Leu3216= |