Linked Data
ClinVar Variation Id:
1290283
ClinVar RCV Id:
RCV001716575
dbSNP Id:
rs778220410
ExAC:
19:55663186 C / T
gnomAD v2:
19-55663186-C-T
gnomAD v4:
19-55151818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151818C>T , CM000681.2:g.55151818C>T | GRCh38 |
| NC_000019.9:g.55663186C>T , CM000681.1:g.55663186C>T | GRCh37 |
| NC_000019.8:g.60354998C>T | NCBI36 |
| NG_007866.2:g.10915G>A , LRG_432:g.10915G>A | |
| NG_011829.2:g.2421G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.*16G>A MANE Select | ENSP00000341838.5:n.*16G>A | |
| ENST00000665070.1:c.*16G>A | ENSP00000499482.1:n.*16G>A | |
| ENST00000344887.9:c.*16G>A | ENSP00000341838.5:n.*16G>A | |
| ENST00000585806.5:n.648G>A | ||
| ENST00000588882.1:c.*16G>A | ENSP00000466729.1:n.*16G>A | |
| ENST00000589864.1:n.477G>A | ||
| NM_000363.4:c.*16G>A , LRG_432t1:c.*16G>A | NP_000354.4:n.*16G>A | |
| NM_000363.5:c.*16G>A MANE Select | NP_000354.4:n.*16G>A |