Linked Data
ClinVar Variation Id:
38084
ClinVar RCV Id:
RCV000031666
RCV000132508
RCV000206651
RCV000445338
RCV001353652
RCV001711136
RCV002250491
RCV003492318
RCV004532455
dbSNP Id:
rs397507382
ExAC:
13:32929092 T / G
gnomAD v2:
13-32929092-T-G
gnomAD v3:
13-32354955-T-G
gnomAD v4:
13-32354955-T-G
PubMed:
PMID:21218378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32354955T>G , CM000675.2:g.32354955T>G | GRCh38 |
| NC_000013.10:g.32929092T>G , CM000675.1:g.32929092T>G | GRCh37 |
| NC_000013.9:g.31827092T>G | NCBI36 |
| NG_012772.3:g.44476T>G , LRG_293:g.44476T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7102T>G | ENSP00000434898.2:p.Leu2368Val | |
| ENST00000528762.2:c.7102T>G | ENSP00000433168.2:p.Leu2368Val | |
| ENST00000530893.7:c.6733T>G | ENSP00000499438.2:p.Leu2245Val | |
| ENST00000665585.2:c.7102T>G | ENSP00000499570.2:p.Leu2368Val | |
| ENST00000666593.2:c.7102T>G | ENSP00000499256.2:p.Leu2368Val | |
| ENST00000700202.2:c.7102T>G | ENSP00000514856.2:p.Leu2368Val | |
| ENST00000380152.8:c.7102T>G MANE Select | ENSP00000369497.3:p.Leu2368Val | |
| ENST00000544455.6:c.7102T>G | ENSP00000439902.1:p.Leu2368Val | |
| ENST00000614259.2:c.7102T>G | ENSP00000506251.1:p.Leu2368Val | |
| ENST00000680887.1:c.7102T>G | ENSP00000505508.1:p.Leu2368Val | |
| ENST00000380152.7:c.7102T>G | ENSP00000369497.3:p.Leu2368Val | |
| ENST00000544455.5:c.7102T>G | ENSP00000439902.1:p.Leu2368Val | |
| ENST00000614259.1:n.7102T>G | ||
| NM_000059.3:c.7102T>G , LRG_293t1:c.7102T>G | NP_000050.2:p.Leu2368Val | |
| XM_011535203.1:c.7102T>G | XP_011533505.1:p.Leu2368Val | |
| XM_011535204.1:c.7006T>G | XP_011533506.1:p.Leu2336Val | |
| XM_011535205.1:c.7102T>G | XP_011533507.1:p.Leu2368Val | |
| NM_000059.4:c.7102T>G MANE Select | NP_000050.3:p.Leu2368Val |