Linked Data
ClinVar Variation Id:
439144
dbSNP Id:
rs769583496
ExAC:
11:5247848 G / A
gnomAD v2:
11-5247848-G-A
gnomAD v3:
11-5226618-G-A
gnomAD v4:
11-5226618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226618G>A , CM000673.2:g.5226618G>A | GRCh38 |
| NC_000011.9:g.5247848G>A , CM000673.1:g.5247848G>A | GRCh37 |
| NC_000011.8:g.5204424G>A | NCBI36 |
| NG_000007.3:g.70998C>T | |
| NG_059281.1:g.5454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.274C>T | ENSP00000494175.1:p.Leu92= | |
| ENST00000335295.4:c.274C>T MANE Select | ENSP00000333994.3:p.Leu92= | |
| ENST00000475226.1:n.206C>T | ||
| ENST00000485743.1:n.325C>T | ||
| ENST00000633227.1:c.*90C>T | ENSP00000488004.1:n.*90C>T | |
| NM_000518.4:c.274C>T | NP_000509.1:p.Leu92= | |
| NM_000518.5:c.274C>T MANE Select | NP_000509.1:p.Leu92= |