Linked Data
dbSNP Id:
rs772540456
ExAC:
19:51363370 T / A
gnomAD v2:
19-51363370-T-A
gnomAD v4:
19-50860114-T-A
MyVariant Identifiers:
chr19:g.51363370T>A (hg19)
chr19:g.51363370_51363371delinsAG (hg19)
chr19:g.50860114T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50860114T>A , CM000681.2:g.50860114T>A | GRCh38 |
| NC_000019.9:g.51363370T>A , CM000681.1:g.51363370T>A | GRCh37 |
| NC_000019.8:g.56055182T>A | NCBI36 |
| NG_011653.1:g.10200T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.773T>A MANE Select | ENSP00000314151.1:p.Val258Glu | |
| ENST00000326003.6:c.773T>A | ENSP00000314151.1:p.Val258Glu | |
| ENST00000360617.7:c.1215T>A | ENSP00000353829.2:n.1215T>A | |
| ENST00000422986.6:c.*429T>A | ENSP00000393628.2:n.*429T>A | |
| ENST00000595392.5:c.*274T>A | ENSP00000468912.1:n.*274T>A | |
| ENST00000595952.5:c.644T>A | ENSP00000471155.1:p.Val215Glu | |
| ENST00000596333.1:n.951T>A | ||
| ENST00000598145.1:c.775T>A | ||
| ENST00000601349.5:n.2052T>A | ||
| ENST00000601812.1:n.1205T>A | ||
| ENST00000617027.4:c.650T>A | ENSP00000483513.1:p.Val217Glu | |
| NM_001030047.1:c.*498T>A | NP_001025218.1:n.*498T>A | |
| NM_001030048.1:c.644T>A | NP_001025219.1:p.Val215Glu | |
| NM_001648.2:c.773T>A MANE Select | NP_001639.1:p.Val258Glu | |
| XM_011526923.1:c.791T>A | XP_011525225.1:p.Val264Glu | |
| XR_935817.1:n.1324+860T>A |