Linked Data
ClinVar Variation Id:
454411
ClinVar RCV Id:
RCV000539276
dbSNP Id:
rs773184959
ExAC:
19:55663274 C / A
gnomAD v2:
19-55663274-C-A
gnomAD v4:
19-55151906-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151906C>A , CM000681.2:g.55151906C>A | GRCh38 |
| NC_000019.9:g.55663274C>A , CM000681.1:g.55663274C>A | GRCh37 |
| NC_000019.8:g.60355086C>A | NCBI36 |
| NG_007866.2:g.10827G>T , LRG_432:g.10827G>T | |
| NG_011829.2:g.2333G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.561G>T MANE Select | ENSP00000341838.5:p.Glu187Asp | |
| ENST00000665070.1:c.594G>T | ENSP00000499482.1:p.Glu198Asp | |
| ENST00000344887.9:c.561G>T | ENSP00000341838.5:p.Glu187Asp | |
| ENST00000585806.5:n.560G>T | ||
| ENST00000588882.1:c.486G>T | ENSP00000466729.1:p.Glu162Asp | |
| ENST00000589864.1:n.389G>T | ||
| NM_000363.4:c.561G>T , LRG_432t1:c.561G>T | NP_000354.4:p.Glu187Asp | |
| NM_000363.5:c.561G>T MANE Select | NP_000354.4:p.Glu187Asp |