Linked Data
ClinVar Variation Id:
518287
dbSNP Id:
rs4804150
ExAC:
19:11327571 C / T
gnomAD v2:
19-11327571-C-T
gnomAD v3:
19-11216895-C-T
gnomAD v4:
19-11216895-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11216895C>T , CM000681.2:g.11216895C>T | GRCh38 |
| NC_000019.9:g.11327571C>T , CM000681.1:g.11327571C>T | GRCh37 |
| NC_000019.8:g.11188571C>T | NCBI36 |
| NG_031953.1:g.50598G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.3999+19G>A | ENSP00000468638.2:n.3999+19G>A | |
| ENST00000294618.12:c.3894+19G>A MANE Select | ENSP00000294618.6:n.3894+19G>A | |
| ENST00000294618.11:c.3894+19G>A | ENSP00000294618.6:n.3894+19G>A | |
| ENST00000587656.5:c.1759+19G>A | ||
| ENST00000588429.1:n.249+19G>A | ||
| ENST00000592403.1:n.240G>A | ||
| NM_020812.3:c.3894+19G>A | NP_065863.2:n.3894+19G>A | |
| XM_005260000.2:c.4092+19G>A | XP_005260057.1:n.4092+19G>A | |
| XM_005260001.2:c.3999+19G>A | XP_005260058.1:n.3999+19G>A | |
| XM_006722804.2:c.1230+19G>A | XP_006722867.1:n.1230+19G>A | |
| XM_011528150.1:c.4032+19G>A | XP_011526452.1:n.4032+19G>A | |
| XM_011528151.1:c.4020+19G>A | XP_011526453.1:n.4020+19G>A | |
| XM_011528152.1:c.3927+19G>A | XP_011526454.1:n.3927+19G>A | |
| XM_011528153.1:c.4032+19G>A | XP_011526455.1:n.4032+19G>A | |
| XR_936195.1:n.4093+19G>A | ||
| XM_006722804.3:c.1230+19G>A | XP_006722867.1:n.1230+19G>A | |
| NM_001367830.1:c.3999+19G>A | NP_001354759.1:n.3999+19G>A | |
| NM_020812.4:c.3894+19G>A MANE Select | NP_065863.2:n.3894+19G>A |