Linked Data
ClinVar Variation Id:
2550968
ClinVar RCV Id:
RCV004322030
dbSNP Id:
rs747752125
ExAC:
19:56320465 C / T
gnomAD v2:
19-56320465-C-T
gnomAD v4:
19-55809099-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55809099C>T , CM000681.2:g.55809099C>T | GRCh38 |
| NC_000019.9:g.56320465C>T , CM000681.1:g.56320465C>T | GRCh37 |
| NC_000019.8:g.61012277C>T | NCBI36 |
| NG_054722.1:g.32664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589093.6:c.1511G>A MANE Select | ENSP00000466285.1:p.Arg504Lys | |
| ENST00000589093.5:c.1511G>A | ENSP00000466285.1:p.Arg504Lys | |
| ENST00000589824.6:c.1511G>A | ENSP00000468082.1:p.Arg504Lys | |
| ENST00000590409.5:c.1214G>A | ENSP00000466582.1:p.Arg405Lys | |
| ENST00000592953.5:c.1214G>A | ENSP00000468196.1:p.Arg405Lys | |
| ENST00000593244.5:c.1511G>A | ENSP00000467988.1:p.Arg504Lys | |
| NM_001297743.1:c.1214G>A | NP_001284672.1:p.Arg405Lys | |
| NM_145007.3:c.1511G>A | NP_659444.2:p.Arg504Lys | |
| NM_001297743.3:c.1214G>A | NP_001284672.1:p.Arg405Lys | |
| NM_001385451.2:c.1511G>A | NP_001372380.1:p.Arg504Lys | |
| NM_001385453.2:c.1511G>A | NP_001372382.1:p.Arg504Lys | |
| NM_145007.5:c.1511G>A | NP_659444.2:p.Arg504Lys | |
| NR_169620.2:n.1702G>A | ||
| NR_169621.2:n.2035G>A | ||
| NR_169622.2:n.796-7360G>A | ||
| NM_001394894.2:c.1511G>A MANE Select | NP_001381823.1:p.Arg504Lys |