Linked Data
ClinVar Variation Id:
1905613
ClinVar RCV Id:
RCV002583639
dbSNP Id:
rs552152124
ExAC:
19:55666211 C / T
gnomAD v2:
19-55666211-C-T
gnomAD v3:
19-55154843-C-T
gnomAD v4:
19-55154843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154843C>T , CM000681.2:g.55154843C>T | GRCh38 |
| NC_000019.9:g.55666211C>T , CM000681.1:g.55666211C>T | GRCh37 |
| NC_000019.8:g.60358023C>T | NCBI36 |
| NG_007866.2:g.7890G>A , LRG_432:g.7890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.283-13G>A MANE Select | ENSP00000341838.5:n.283-13G>A | |
| ENST00000665070.1:c.283-13G>A | ENSP00000499482.1:n.283-13G>A | |
| ENST00000344887.9:c.283-13G>A | ENSP00000341838.5:n.283-13G>A | |
| ENST00000585806.5:n.282-13G>A | ||
| ENST00000586669.5:n.291-13G>A | ||
| ENST00000587176.5:n.467-13G>A | ||
| ENST00000587871.1:c.902-13G>A | ||
| ENST00000588882.1:c.208-13G>A | ENSP00000466729.1:n.208-13G>A | |
| ENST00000590463.1:n.455-13G>A | ||
| NM_000363.4:c.283-13G>A , LRG_432t1:c.283-13G>A | NP_000354.4:n.283-13G>A | |
| NM_000363.5:c.283-13G>A MANE Select | NP_000354.4:n.283-13G>A |