Linked Data
ClinVar Variation Id:
572460
ClinVar RCV Id:
RCV000693844
dbSNP Id:
rs1197428009
gnomAD v4:
19-55154026-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154026T>A , CM000681.2:g.55154026T>A | GRCh38 |
| NC_000019.9:g.55665394T>A , CM000681.1:g.55665394T>A | GRCh37 |
| NC_000019.8:g.60357206T>A | NCBI36 |
| NG_007866.2:g.8707A>T , LRG_432:g.8707A>T | |
| NG_011829.2:g.213A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.549+4A>T MANE Select | ENSP00000341838.5:n.549+4A>T | |
| ENST00000665070.1:c.582+4A>T | ENSP00000499482.1:n.582+4A>T | |
| ENST00000344887.9:c.549+4A>T | ENSP00000341838.5:n.549+4A>T | |
| ENST00000585806.5:n.548+4A>T | ||
| ENST00000588882.1:c.474+4A>T | ENSP00000466729.1:n.474+4A>T | |
| ENST00000589864.1:n.377+4A>T | ||
| NM_000363.4:c.549+4A>T , LRG_432t1:c.549+4A>T | NP_000354.4:n.549+4A>T | |
| NM_000363.5:c.549+4A>T MANE Select | NP_000354.4:n.549+4A>T |