Linked Data
ClinVar Variation Id:
451935
dbSNP Id:
rs145062583
ExAC:
19:12766516 C / T
gnomAD v2:
19-12766516-C-T
gnomAD v3:
19-12655702-C-T
gnomAD v4:
19-12655702-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12655702C>T , CM000681.2:g.12655702C>T | GRCh38 |
| NC_000019.9:g.12766516C>T , CM000681.1:g.12766516C>T | GRCh37 |
| NC_000019.8:g.12627516C>T | NCBI36 |
| NG_008318.1:g.16076G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1822G>A MANE Select | ENSP00000395473.2:p.Glu608Lys | |
| ENST00000221363.8:c.1819G>A | ENSP00000221363.4:p.Glu607Lys | |
| ENST00000433513.5:n.428G>A | ||
| ENST00000456935.6:c.1822G>A | ENSP00000395473.2:p.Glu608Lys | |
| ENST00000466794.5:n.2412G>A | ||
| ENST00000593686.1:c.415G>A | ||
| ENST00000595880.5:n.419G>A | ||
| ENST00000596591.1:c.186G>A | ||
| NM_000528.3:c.1822G>A | NP_000519.2:p.Glu608Lys | |
| NM_001173498.1:c.1819G>A | NP_001166969.1:p.Glu607Lys | |
| XM_005259913.1:c.1825G>A | XP_005259970.1:p.Glu609Lys | |
| XM_011528017.1:c.721G>A | XP_011526319.1:p.Glu241Lys | |
| XM_005259913.2:c.1825G>A | XP_005259970.1:p.Glu609Lys | |
| XM_024451518.1:c.721G>A | XP_024307286.1:p.Glu241Lys | |
| NM_000528.4:c.1822G>A MANE Select | NP_000519.2:p.Glu608Lys | |
| NM_001173498.2:c.1819G>A | NP_001166969.1:p.Glu607Lys |