Linked Data
ClinVar Variation Id:
142831
dbSNP Id:
rs567476314
gnomAD v2:
13-32972647-C-G
gnomAD v3:
13-32398510-C-G
gnomAD v4:
13-32398510-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398510C>G , CM000675.2:g.32398510C>G | GRCh38 |
| NC_000013.10:g.32972647C>G , CM000675.1:g.32972647C>G | GRCh37 |
| NC_000013.9:g.31870647C>G | NCBI36 |
| NG_012772.3:g.88031C>G , LRG_293:g.88031C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*520C>G | ENSP00000434898.2:n.*520C>G | |
| ENST00000528762.2:c.*1364C>G | ENSP00000433168.2:n.*1364C>G | |
| ENST00000530893.7:c.9628C>G | ENSP00000499438.2:p.Leu3210Val | |
| ENST00000665585.2:c.*1559C>G | ENSP00000499570.2:n.*1559C>G | |
| ENST00000700202.2:c.9946C>G | ENSP00000514856.2:p.Leu3316Val | |
| ENST00000700202.1:c.2413C>G | ENSP00000514856.1:p.Leu805Val | |
| ENST00000700203.1:n.2124C>G | ||
| ENST00000380152.8:c.9997C>G MANE Select | ENSP00000369497.3:p.Leu3333Val | |
| ENST00000544455.6:c.9997C>G | ENSP00000439902.1:p.Leu3333Val | |
| ENST00000614259.2:c.10005C>G | ENSP00000506251.1:n.10005C>G | |
| ENST00000680887.1:c.9997C>G | ENSP00000505508.1:p.Leu3333Val | |
| ENST00000380152.7:c.9997C>G | ENSP00000369497.3:p.Leu3333Val | |
| ENST00000544455.5:c.9997C>G | ENSP00000439902.1:p.Leu3333Val | |
| NM_000059.3:c.9997C>G , LRG_293t1:c.9997C>G | NP_000050.2:p.Leu3333Val | |
| XM_011535203.1:c.9997C>G | XP_011533505.1:p.Leu3333Val | |
| XM_011535204.1:c.9901C>G | XP_011533506.1:p.Leu3301Val | |
| NM_000059.4:c.9997C>G MANE Select | NP_000050.3:p.Leu3333Val |