Linked Data
ClinVar Variation Id:
50938
dbSNP Id:
rs146618055
ExAC:
19:4090659 G / A
gnomAD v2:
19-4090659-G-A
gnomAD v3:
19-4090661-G-A
gnomAD v4:
19-4090661-G-A
ERepo:
CA143886/MONDO:0021060/004
PubMed:
PMID:22558107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090661G>A , CM000681.2:g.4090661G>A | GRCh38 |
| NC_000019.9:g.4090659G>A , CM000681.1:g.4090659G>A | GRCh37 |
| NC_000019.8:g.4041659G>A | NCBI36 |
| NG_007996.1:g.38468C>T , LRG_750:g.38468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1579C>T | ||
| ENST00000688002.1:n.3291C>T | ||
| ENST00000688751.1:n.276C>T | ||
| ENST00000689792.1:n.1044C>T | ||
| ENST00000262948.10:c.1140C>T MANE Select | ENSP00000262948.4:p.Ala380= | |
| ENST00000262948.9:c.1140C>T | ENSP00000262948.3:p.Ala380= | |
| ENST00000394867.8:c.849C>T | ENSP00000378336.1:p.Ala283= | |
| ENST00000597263.5:n.325C>T | ||
| ENST00000599021.1:c.250C>T | ||
| ENST00000600584.5:n.2589C>T | ||
| ENST00000601786.5:n.1441C>T | ||
| NM_030662.3:c.1140C>T , LRG_750t1:c.1140C>T | NP_109587.1:p.Ala380= | |
| XM_006722799.2:c.861C>T | XP_006722862.1:p.Ala287= | |
| XM_011528133.1:c.570C>T | XP_011526435.1:p.Ala190= | |
| NM_030662.4:c.1140C>T MANE Select | NP_109587.1:p.Ala380= |