Linked Data
ClinVar Variation Id:
52865
ClinVar RCV Id:
RCV000077472
RCV000165783
RCV000482475
RCV000765145
RCV001318855
RCV003153338
RCV003492371
dbSNP Id:
rs200598289
ExAC:
13:32971071 C / T
gnomAD v2:
13-32971071-C-T
gnomAD v3:
13-32396934-C-T
gnomAD v4:
13-32396934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32396934C>T , CM000675.2:g.32396934C>T | GRCh38 |
| NC_000013.10:g.32971071C>T , CM000675.1:g.32971071C>T | GRCh37 |
| NC_000013.9:g.31869071C>T | NCBI36 |
| NG_012772.3:g.86455C>T , LRG_293:g.86455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*61C>T | ENSP00000434898.2:n.*61C>T | |
| ENST00000528762.2:c.*905C>T | ENSP00000433168.2:n.*905C>T | |
| ENST00000530893.7:c.9169C>T | ENSP00000499438.2:p.Leu3057Phe | |
| ENST00000665585.2:c.*1100C>T | ENSP00000499570.2:n.*1100C>T | |
| ENST00000700202.2:c.9487C>T | ENSP00000514856.2:p.Leu3163Phe | |
| ENST00000700202.1:c.1954C>T | ENSP00000514856.1:p.Leu652Phe | |
| ENST00000700203.1:n.1665C>T | ||
| ENST00000380152.8:c.9538C>T MANE Select | ENSP00000369497.3:p.Leu3180Phe | |
| ENST00000544455.6:c.9538C>T | ENSP00000439902.1:p.Leu3180Phe | |
| ENST00000614259.2:c.9546C>T | ENSP00000506251.1:n.9546C>T | |
| ENST00000665585.1:c.2416C>T | ||
| ENST00000680887.1:c.9538C>T | ENSP00000505508.1:p.Leu3180Phe | |
| ENST00000380152.7:c.9538C>T | ENSP00000369497.3:p.Leu3180Phe | |
| ENST00000470094.1:c.621C>T | ||
| ENST00000533776.1:n.126C>T | ||
| ENST00000544455.5:c.9538C>T | ENSP00000439902.1:p.Leu3180Phe | |
| NM_000059.3:c.9538C>T , LRG_293t1:c.9538C>T | NP_000050.2:p.Leu3180Phe | |
| XM_011535203.1:c.9538C>T | XP_011533505.1:p.Leu3180Phe | |
| XM_011535204.1:c.9442C>T | XP_011533506.1:p.Leu3148Phe | |
| NM_000059.4:c.9538C>T MANE Select | NP_000050.3:p.Leu3180Phe |