Linked Data
ClinVar Variation Id:
261928
dbSNP Id:
rs140896887
ExAC:
19:4094469 C / T
gnomAD v2:
19-4094469-C-T
gnomAD v3:
19-4094471-C-T
gnomAD v4:
19-4094471-C-T
ERepo:
CA9090706/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094471C>T , CM000681.2:g.4094471C>T | GRCh38 |
| NC_000019.9:g.4094469C>T , CM000681.1:g.4094469C>T | GRCh37 |
| NC_000019.8:g.4045469C>T | NCBI36 |
| NG_007996.1:g.34658G>A , LRG_750:g.34658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1513G>A | ||
| ENST00000688002.1:n.3225G>A | ||
| ENST00000688751.1:n.210G>A | ||
| ENST00000689792.1:n.978G>A | ||
| ENST00000262948.10:c.1074G>A MANE Select | ENSP00000262948.4:p.Ala358= | |
| ENST00000262948.9:c.1074G>A | ENSP00000262948.3:p.Ala358= | |
| ENST00000394867.8:c.783G>A | ENSP00000378336.1:p.Ala261= | |
| ENST00000597263.5:n.259G>A | ||
| ENST00000599021.1:c.184G>A | ||
| ENST00000600584.5:n.2523G>A | ||
| ENST00000601786.5:n.1375G>A | ||
| NM_030662.3:c.1074G>A , LRG_750t1:c.1074G>A | NP_109587.1:p.Ala358= | |
| XM_006722799.2:c.795G>A | XP_006722862.1:p.Ala265= | |
| XM_011528133.1:c.504G>A | XP_011526435.1:p.Ala168= | |
| NM_030662.4:c.1074G>A MANE Select | NP_109587.1:p.Ala358= |