Linked Data
ClinVar Variation Id:
52891
dbSNP Id:
rs80359238
gnomAD v2:
13-32972340-A-T
gnomAD v3:
13-32398203-A-T
gnomAD v4:
13-32398203-A-T
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398203A>T , CM000675.2:g.32398203A>T | GRCh38 |
| NC_000013.10:g.32972340A>T , CM000675.1:g.32972340A>T | GRCh37 |
| NC_000013.9:g.31870340A>T | NCBI36 |
| NG_012772.3:g.87724A>T , LRG_293:g.87724A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*213A>T | ENSP00000434898.2:n.*213A>T | |
| ENST00000528762.2:c.*1057A>T | ENSP00000433168.2:n.*1057A>T | |
| ENST00000530893.7:c.9321A>T | ENSP00000499438.2:p.Leu3107Phe | |
| ENST00000665585.2:c.*1252A>T | ENSP00000499570.2:n.*1252A>T | |
| ENST00000700202.2:c.9639A>T | ENSP00000514856.2:p.Leu3213Phe | |
| ENST00000700202.1:c.2106A>T | ENSP00000514856.1:p.Leu702Phe | |
| ENST00000700203.1:n.1817A>T | ||
| ENST00000380152.8:c.9690A>T MANE Select | ENSP00000369497.3:p.Leu3230Phe | |
| ENST00000544455.6:c.9690A>T | ENSP00000439902.1:p.Leu3230Phe | |
| ENST00000614259.2:c.9698A>T | ENSP00000506251.1:n.9698A>T | |
| ENST00000665585.1:c.2568A>T | ||
| ENST00000680887.1:c.9690A>T | ENSP00000505508.1:p.Leu3230Phe | |
| ENST00000380152.7:c.9690A>T | ENSP00000369497.3:p.Leu3230Phe | |
| ENST00000470094.1:c.773A>T | ||
| ENST00000533776.1:n.278A>T | ||
| ENST00000544455.5:c.9690A>T | ENSP00000439902.1:p.Leu3230Phe | |
| NM_000059.3:c.9690A>T , LRG_293t1:c.9690A>T | NP_000050.2:p.Leu3230Phe | |
| XM_011535203.1:c.9690A>T | XP_011533505.1:p.Leu3230Phe | |
| XM_011535204.1:c.9594A>T | XP_011533506.1:p.Leu3198Phe | |
| NM_000059.4:c.9690A>T MANE Select | NP_000050.3:p.Leu3230Phe |