Linked Data
ClinVar Variation Id:
329086
ClinVar RCV Id:
RCV000289050
RCV000346443
RCV000381209
RCV000384648
RCV001660679
RCV000655514
RCV003995872
dbSNP Id:
rs200797340
ExAC:
19:39002226 G / A
gnomAD v2:
19-39002226-G-A
gnomAD v3:
19-38511586-G-A
gnomAD v4:
19-38511586-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38511586G>A , CM000681.2:g.38511586G>A | GRCh38 |
| NC_000019.9:g.39002226G>A , CM000681.1:g.39002226G>A | GRCh37 |
| NC_000019.8:g.43694066G>A | NCBI36 |
| NG_008866.1:g.82887G>A , LRG_766:g.82887G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.9148G>A | ENSP00000471601.2:p.Val3050Ile | |
| ENST00000359596.8:c.9148G>A MANE Select | ENSP00000352608.2:p.Val3050Ile | |
| ENST00000355481.8:c.9148G>A | ENSP00000347667.3:p.Val3050Ile | |
| ENST00000359596.7:c.9148G>A | ENSP00000352608.2:p.Val3050Ile | |
| ENST00000360985.7:c.9145G>A | ENSP00000354254.4:p.Val3049Ile | |
| ENST00000594335.5:c.2575-486G>A | ||
| ENST00000599547.5:c.16G>A | ||
| NM_000540.2:c.9148G>A , LRG_766t1:c.9148G>A | NP_000531.2:p.Val3050Ile | |
| NM_001042723.1:c.9148G>A | NP_001036188.1:p.Val3050Ile | |
| XM_006723317.1:c.9148G>A | XP_006723380.1:p.Val3050Ile | |
| XM_006723319.1:c.9148G>A | XP_006723382.1:p.Val3050Ile | |
| XM_011527204.1:c.9145G>A | XP_011525506.1:p.Val3049Ile | |
| XM_011527205.1:c.9148G>A | XP_011525507.1:p.Val3050Ile | |
| XM_006723317.2:c.9148G>A | XP_006723380.1:p.Val3050Ile | |
| XM_006723319.2:c.9148G>A | XP_006723382.1:p.Val3050Ile | |
| XM_011527205.2:c.9148G>A | XP_011525507.1:p.Val3050Ile | |
| XR_001753735.1:n.9206-486G>A | ||
| NM_000540.3:c.9148G>A MANE Select | NP_000531.2:p.Val3050Ile | |
| NM_001042723.2:c.9148G>A | NP_001036188.1:p.Val3050Ile |