Linked Data
ClinVar Variation Id:
1736188
dbSNP Id:
rs397517413
gnomAD v3:
19-4110568-C-A
gnomAD v4:
19-4110568-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4110568C>A , CM000681.2:g.4110568C>A | GRCh38 |
| NC_000019.9:g.4110566C>A , CM000681.1:g.4110566C>A | GRCh37 |
| NC_000019.8:g.4061566C>A | NCBI36 |
| NG_007996.1:g.18561G>T , LRG_750:g.18561G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.830G>T | ||
| ENST00000687128.1:n.830G>T | ||
| ENST00000262948.10:c.391G>T MANE Select | ENSP00000262948.4:p.Val131Leu | |
| ENST00000262948.9:c.391G>T | ENSP00000262948.3:p.Val131Leu | |
| ENST00000394867.8:c.100G>T | ENSP00000378336.1:p.Val34Leu | |
| ENST00000599345.1:n.588G>T | ||
| NM_030662.3:c.391G>T , LRG_750t1:c.391G>T | NP_109587.1:p.Val131Leu | |
| XM_006722799.2:c.391G>T | XP_006722862.1:p.Val131Leu | |
| XM_017026989.1:c.391G>T | XP_016882478.1:p.Val131Leu | |
| XM_017026990.1:c.391G>T | XP_016882479.1:p.Val131Leu | |
| XM_017026991.1:c.391G>T | XP_016882480.1:p.Val131Leu | |
| NM_030662.4:c.391G>T MANE Select | NP_109587.1:p.Val131Leu |