Linked Data
ClinVar Variation Id:
180903
dbSNP Id:
rs730880509
ExAC:
19:4099205 C / T
gnomAD v2:
19-4099205-C-T
gnomAD v3:
19-4099207-C-T
gnomAD v4:
19-4099207-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099207C>T , CM000681.2:g.4099207C>T | GRCh38 |
| NC_000019.9:g.4099205C>T , CM000681.1:g.4099205C>T | GRCh37 |
| NC_000019.8:g.4050205C>T | NCBI36 |
| NG_007996.1:g.29922G>A , LRG_750:g.29922G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1352G>A | ||
| ENST00000687128.1:n.1352G>A | ||
| ENST00000688002.1:n.1207G>A | ||
| ENST00000689792.1:n.817G>A | ||
| ENST00000262948.10:c.913G>A MANE Select | ENSP00000262948.4:p.Val305Ile | |
| ENST00000262948.9:c.913G>A | ENSP00000262948.3:p.Val305Ile | |
| ENST00000394867.8:c.622G>A | ENSP00000378336.1:p.Val208Ile | |
| ENST00000593364.5:n.860G>A | ||
| ENST00000595715.1:n.728G>A | ||
| ENST00000597263.5:n.169+1812G>A | ||
| ENST00000599021.1:c.29+1812G>A | ||
| ENST00000600584.5:n.1473G>A | ||
| ENST00000601786.5:n.1214G>A | ||
| NM_030662.3:c.913G>A , LRG_750t1:c.913G>A | NP_109587.1:p.Val305Ile | |
| XM_006722799.2:c.705+1812G>A | XP_006722862.1:n.705+1812G>A | |
| XM_011528133.1:c.343G>A | XP_011526435.1:p.Val115Ile | |
| XM_017026989.1:c.913G>A | XP_016882478.1:p.Val305Ile | |
| XM_017026990.1:c.705+1812G>A | XP_016882479.1:n.705+1812G>A | |
| NM_030662.4:c.913G>A MANE Select | NP_109587.1:p.Val305Ile |