Linked Data
ClinVar Variation Id:
525052
ClinVar RCV Id:
RCV000629043
dbSNP Id:
rs200573982
ExAC:
19:55666101 C / A
gnomAD v2:
19-55666101-C-A
gnomAD v3:
19-55154733-C-A
gnomAD v4:
19-55154733-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154733C>A , CM000681.2:g.55154733C>A | GRCh38 |
| NC_000019.9:g.55666101C>A , CM000681.1:g.55666101C>A | GRCh37 |
| NC_000019.8:g.60357913C>A | NCBI36 |
| NG_007866.2:g.8000G>T , LRG_432:g.8000G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.372+8G>T MANE Select | ENSP00000341838.5:n.372+8G>T | |
| ENST00000665070.1:c.380G>T | ENSP00000499482.1:p.Arg127Leu | |
| ENST00000344887.9:c.372+8G>T | ENSP00000341838.5:n.372+8G>T | |
| ENST00000585806.5:n.371+8G>T | ||
| ENST00000586669.5:n.380+8G>T | ||
| ENST00000587176.5:n.564G>T | ||
| ENST00000588882.1:c.297+8G>T | ENSP00000466729.1:n.297+8G>T | |
| NM_000363.4:c.372+8G>T , LRG_432t1:c.372+8G>T | NP_000354.4:n.372+8G>T | |
| NM_000363.5:c.372+8G>T MANE Select | NP_000354.4:n.372+8G>T |