Linked Data
ClinVar Variation Id:
52894
dbSNP Id:
rs80359240
gnomAD v2:
13-32972368-G-A
gnomAD v3:
13-32398231-G-A
gnomAD v4:
13-32398231-G-A
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398231G>A , CM000675.2:g.32398231G>A | GRCh38 |
| NC_000013.10:g.32972368G>A , CM000675.1:g.32972368G>A | GRCh37 |
| NC_000013.9:g.31870368G>A | NCBI36 |
| NG_012772.3:g.87752G>A , LRG_293:g.87752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*241G>A | ENSP00000434898.2:n.*241G>A | |
| ENST00000528762.2:c.*1085G>A | ENSP00000433168.2:n.*1085G>A | |
| ENST00000530893.7:c.9349G>A | ENSP00000499438.2:p.Val3117Ile | |
| ENST00000665585.2:c.*1280G>A | ENSP00000499570.2:n.*1280G>A | |
| ENST00000700202.2:c.9667G>A | ENSP00000514856.2:p.Val3223Ile | |
| ENST00000700202.1:c.2134G>A | ENSP00000514856.1:p.Val712Ile | |
| ENST00000700203.1:n.1845G>A | ||
| ENST00000380152.8:c.9718G>A MANE Select | ENSP00000369497.3:p.Val3240Ile | |
| ENST00000544455.6:c.9718G>A | ENSP00000439902.1:p.Val3240Ile | |
| ENST00000614259.2:c.9726G>A | ENSP00000506251.1:n.9726G>A | |
| ENST00000665585.1:c.2596G>A | ||
| ENST00000680887.1:c.9718G>A | ENSP00000505508.1:p.Val3240Ile | |
| ENST00000380152.7:c.9718G>A | ENSP00000369497.3:p.Val3240Ile | |
| ENST00000470094.1:c.801G>A | ||
| ENST00000533776.1:n.306G>A | ||
| ENST00000544455.5:c.9718G>A | ENSP00000439902.1:p.Val3240Ile | |
| NM_000059.3:c.9718G>A , LRG_293t1:c.9718G>A | NP_000050.2:p.Val3240Ile | |
| XM_011535203.1:c.9718G>A | XP_011533505.1:p.Val3240Ile | |
| XM_011535204.1:c.9622G>A | XP_011533506.1:p.Val3208Ile | |
| NM_000059.4:c.9718G>A MANE Select | NP_000050.3:p.Val3240Ile |