Linked Data
ClinVar Variation Id:
1670591
ClinVar RCV Id:
RCV002203882
dbSNP Id:
rs1466261064
gnomAD v2:
13-32968896-T-C
gnomAD v4:
13-32394759-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394759T>C , CM000675.2:g.32394759T>C | GRCh38 |
| NC_000013.10:g.32968896T>C , CM000675.1:g.32968896T>C | GRCh37 |
| NC_000013.9:g.31866896T>C | NCBI36 |
| NG_012772.3:g.84280T>C , LRG_293:g.84280T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9327T>C | ENSP00000434898.2:p.Leu3109= | |
| ENST00000528762.2:c.*694T>C | ENSP00000433168.2:n.*694T>C | |
| ENST00000530893.7:c.8958T>C | ENSP00000499438.2:p.Leu2986= | |
| ENST00000665585.2:c.*889T>C | ENSP00000499570.2:n.*889T>C | |
| ENST00000666593.2:c.*172T>C | ENSP00000499256.2:n.*172T>C | |
| ENST00000700202.2:c.9276T>C | ENSP00000514856.2:p.Leu3092= | |
| ENST00000700202.1:c.1743T>C | ENSP00000514856.1:p.Leu581= | |
| ENST00000700203.1:n.1454T>C | ||
| ENST00000380152.8:c.9327T>C MANE Select | ENSP00000369497.3:p.Leu3109= | |
| ENST00000544455.6:c.9327T>C | ENSP00000439902.1:p.Leu3109= | |
| ENST00000614259.2:c.9335T>C | ENSP00000506251.1:n.9335T>C | |
| ENST00000665585.1:c.2205T>C | ||
| ENST00000666593.1:c.349T>C | ENSP00000499256.1:n.349T>C | |
| ENST00000680887.1:c.9327T>C | ENSP00000505508.1:p.Leu3109= | |
| ENST00000380152.7:c.9327T>C | ENSP00000369497.3:p.Leu3109= | |
| ENST00000470094.1:c.284T>C | ||
| ENST00000544455.5:c.9327T>C | ENSP00000439902.1:p.Leu3109= | |
| NM_000059.3:c.9327T>C , LRG_293t1:c.9327T>C | NP_000050.2:p.Leu3109= | |
| XM_011535203.1:c.9327T>C | XP_011533505.1:p.Leu3109= | |
| XM_011535204.1:c.9231T>C | XP_011533506.1:p.Leu3077= | |
| NM_000059.4:c.9327T>C MANE Select | NP_000050.3:p.Leu3109= |