Linked Data
ClinVar Variation Id:
823510
dbSNP Id:
rs1060504614
gnomAD v2:
13-32972508-T-A
gnomAD v4:
13-32398371-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398371T>A , CM000675.2:g.32398371T>A | GRCh38 |
| NC_000013.10:g.32972508T>A , CM000675.1:g.32972508T>A | GRCh37 |
| NC_000013.9:g.31870508T>A | NCBI36 |
| NG_012772.3:g.87892T>A , LRG_293:g.87892T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*381T>A | ENSP00000434898.2:n.*381T>A | |
| ENST00000528762.2:c.*1225T>A | ENSP00000433168.2:n.*1225T>A | |
| ENST00000530893.7:c.9489T>A | ENSP00000499438.2:p.Ile3163= | |
| ENST00000665585.2:c.*1420T>A | ENSP00000499570.2:n.*1420T>A | |
| ENST00000700202.2:c.9807T>A | ENSP00000514856.2:p.Ile3269= | |
| ENST00000700202.1:c.2274T>A | ENSP00000514856.1:p.Ile758= | |
| ENST00000700203.1:n.1985T>A | ||
| ENST00000380152.8:c.9858T>A MANE Select | ENSP00000369497.3:p.Ile3286= | |
| ENST00000544455.6:c.9858T>A | ENSP00000439902.1:p.Ile3286= | |
| ENST00000614259.2:c.9866T>A | ENSP00000506251.1:n.9866T>A | |
| ENST00000680887.1:c.9858T>A | ENSP00000505508.1:p.Ile3286= | |
| ENST00000380152.7:c.9858T>A | ENSP00000369497.3:p.Ile3286= | |
| ENST00000533776.1:n.446T>A | ||
| ENST00000544455.5:c.9858T>A | ENSP00000439902.1:p.Ile3286= | |
| NM_000059.3:c.9858T>A , LRG_293t1:c.9858T>A | NP_000050.2:p.Ile3286= | |
| XM_011535203.1:c.9858T>A | XP_011533505.1:p.Ile3286= | |
| XM_011535204.1:c.9762T>A | XP_011533506.1:p.Ile3254= | |
| NM_000059.4:c.9858T>A MANE Select | NP_000050.3:p.Ile3286= |