Linked Data
ClinVar Variation Id:
462216
dbSNP Id:
rs1475702169
gnomAD v2:
13-32972704-C-G
gnomAD v3:
13-32398567-C-G
gnomAD v4:
13-32398567-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398567C>G , CM000675.2:g.32398567C>G | GRCh38 |
| NC_000013.10:g.32972704C>G , CM000675.1:g.32972704C>G | GRCh37 |
| NC_000013.9:g.31870704C>G | NCBI36 |
| NG_012772.3:g.88088C>G , LRG_293:g.88088C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*577C>G | ENSP00000434898.2:n.*577C>G | |
| ENST00000528762.2:c.*1421C>G | ENSP00000433168.2:n.*1421C>G | |
| ENST00000530893.7:c.9685C>G | ENSP00000499438.2:p.Leu3229Val | |
| ENST00000665585.2:c.*1616C>G | ENSP00000499570.2:n.*1616C>G | |
| ENST00000700202.2:c.10003C>G | ENSP00000514856.2:p.Leu3335Val | |
| ENST00000700202.1:c.2470C>G | ENSP00000514856.1:p.Leu824Val | |
| ENST00000700203.1:n.2181C>G | ||
| ENST00000380152.8:c.10054C>G MANE Select | ENSP00000369497.3:p.Leu3352Val | |
| ENST00000544455.6:c.10054C>G | ENSP00000439902.1:p.Leu3352Val | |
| ENST00000614259.2:c.10062C>G | ENSP00000506251.1:n.10062C>G | |
| ENST00000680887.1:c.10054C>G | ENSP00000505508.1:p.Leu3352Val | |
| ENST00000380152.7:c.10054C>G | ENSP00000369497.3:p.Leu3352Val | |
| ENST00000544455.5:c.10054C>G | ENSP00000439902.1:p.Leu3352Val | |
| NM_000059.3:c.10054C>G , LRG_293t1:c.10054C>G | NP_000050.2:p.Leu3352Val | |
| XM_011535203.1:c.10054C>G | XP_011533505.1:p.Leu3352Val | |
| XM_011535204.1:c.9958C>G | XP_011533506.1:p.Leu3320Val | |
| NM_000059.4:c.10054C>G MANE Select | NP_000050.3:p.Leu3352Val |