Linked Data
ClinVar Variation Id:
167056
dbSNP Id:
rs77562614
ExAC:
2:62053619 C / T
gnomAD v2:
2-62053619-C-T
gnomAD v3:
2-61826484-C-T
gnomAD v4:
2-61826484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61826484C>T , CM000664.2:g.61826484C>T | GRCh38 |
| NC_000002.11:g.62053619C>T , CM000664.1:g.62053619C>T | GRCh37 |
| NC_000002.10:g.61907123C>T | NCBI36 |
| NG_028125.1:g.32660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.2122G>A MANE Select | ENSP00000385158.1:p.Glu708Lys | |
| ENST00000404929.5:c.2122G>A | ENSP00000385158.1:p.Glu708Lys | |
| ENST00000405894.3:c.1954G>A | ENSP00000385893.3:p.Glu652Lys | |
| ENST00000418113.5:c.2399G>A | ||
| ENST00000456262.5:c.*1469G>A | ENSP00000396105.1:n.*1469G>A | |
| NM_001201543.1:c.2122G>A | NP_001188472.1:p.Glu708Lys | |
| NM_032180.2:c.1954G>A | NP_115556.2:p.Glu652Lys | |
| NR_037710.1:n.2000G>A | ||
| XR_939724.1:n.3367+620G>A | ||
| XM_017005072.1:c.1627G>A | XP_016860561.1:p.Glu543Lys | |
| XM_017005073.1:c.1552G>A | XP_016860562.1:p.Glu518Lys | |
| XM_017005074.1:c.1384G>A | XP_016860563.1:p.Glu462Lys | |
| XR_001738972.2:n.2007+620G>A | ||
| XR_001738973.2:n.1839+620G>A | ||
| XR_001738974.2:n.2007+620G>A | ||
| XR_001738976.1:n.2035+620G>A | ||
| XR_001738977.1:n.1867+620G>A | ||
| NM_001201543.2:c.2122G>A MANE Select | NP_001188472.1:p.Glu708Lys | |
| NM_032180.3:c.1954G>A | NP_115556.2:p.Glu652Lys | |
| NR_037710.2:n.1917G>A |