Linked Data
ClinVar Variation Id:
52430
ClinVar RCV Id:
RCV000045337
RCV000077415
RCV000131675
RCV000218666
RCV000763326
RCV001171395
RCV001289537
dbSNP Id:
rs80359014
gnomAD v4:
13-32362596-A-T
ERepo:
CA025321/MONDO:0012933/097
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32362596A>T , CM000675.2:g.32362596A>T | GRCh38 |
| NC_000013.10:g.32936733A>T , CM000675.1:g.32936733A>T | GRCh37 |
| NC_000013.9:g.31834733A>T | NCBI36 |
| NG_012772.3:g.52117A>T , LRG_293:g.52117A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.7879A>T | ENSP00000434898.2:p.Ile2627Phe | |
| ENST00000528762.2:c.7879A>T | ENSP00000433168.2:p.Ile2627Phe | |
| ENST00000530893.7:c.7510A>T | ENSP00000499438.2:p.Ile2504Phe | |
| ENST00000665585.2:c.7879A>T | ENSP00000499570.2:p.Ile2627Phe | |
| ENST00000666593.2:c.7879A>T | ENSP00000499256.2:p.Ile2627Phe | |
| ENST00000700202.2:c.7879A>T | ENSP00000514856.2:p.Ile2627Phe | |
| ENST00000700202.1:c.346A>T | ENSP00000514856.1:p.Ile116Phe | |
| ENST00000380152.8:c.7879A>T MANE Select | ENSP00000369497.3:p.Ile2627Phe | |
| ENST00000544455.6:c.7879A>T | ENSP00000439902.1:p.Ile2627Phe | |
| ENST00000614259.2:c.7887A>T | ENSP00000506251.1:p.Gly2629= | |
| ENST00000665585.1:c.444A>T | ||
| ENST00000680887.1:c.7879A>T | ENSP00000505508.1:p.Ile2627Phe | |
| ENST00000380152.7:c.7879A>T | ENSP00000369497.3:p.Ile2627Phe | |
| ENST00000544455.5:c.7879A>T | ENSP00000439902.1:p.Ile2627Phe | |
| ENST00000614259.1:n.7887A>T | ||
| NM_000059.3:c.7879A>T , LRG_293t1:c.7879A>T | NP_000050.2:p.Ile2627Phe | |
| XM_011535203.1:c.7879A>T | XP_011533505.1:p.Ile2627Phe | |
| XM_011535204.1:c.7783A>T | XP_011533506.1:p.Ile2595Phe | |
| XM_011535205.1:c.7879A>T | XP_011533507.1:p.Ile2627Phe | |
| NM_000059.4:c.7879A>T MANE Select | NP_000050.3:p.Ile2627Phe |