Linked Data
ClinVar Variation Id:
439392
dbSNP Id:
rs182452385
ExAC:
5:90074814 G / A
gnomAD v2:
5-90074814-G-A
gnomAD v3:
5-90778997-G-A
gnomAD v4:
5-90778997-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90778997G>A , CM000667.2:g.90778997G>A | GRCh38 |
| NC_000005.9:g.90074814G>A , CM000667.1:g.90074814G>A | GRCh37 |
| NC_000005.8:g.90110570G>A | NCBI36 |
| NG_007083.1:g.225198G>A | |
| NG_007083.2:g.254654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12982G>A MANE Select | ENSP00000384582.2:p.Glu4328Lys | |
| ENST00000425867.3:c.1936G>A | ENSP00000392618.3:p.Glu646Lys | |
| ENST00000639431.1:c.265+102788G>A | ENSP00000491057.1:n.265+102788G>A | |
| ENST00000640464.1:n.3401G>A | ||
| ENST00000405460.6:c.12982G>A | ENSP00000384582.2:p.Glu4328Lys | |
| NM_032119.3:c.12982G>A | NP_115495.3:p.Glu4328Lys | |
| NR_003149.1:n.12995G>A | ||
| XM_011543675.1:c.12979G>A | XP_011541977.1:p.Glu4327Lys | |
| XM_011543676.1:c.12901G>A | XP_011541978.1:p.Glu4301Lys | |
| XM_011543677.1:c.10285G>A | XP_011541979.1:p.Glu3429Lys | |
| XM_011543678.1:c.12982G>A | XP_011541980.1:p.Glu4328Lys | |
| NM_032119.4:c.12982G>A MANE Select | NP_115495.3:p.Glu4328Lys | |
| XM_017009963.2:c.13003G>A | XP_016865452.1:p.Glu4335Lys | |
| XM_017009964.2:c.13000G>A | XP_016865453.1:p.Glu4334Lys | |
| XM_017009965.1:c.13000G>A | XP_016865454.1:p.Glu4334Lys | |
| XM_017009966.2:c.12922G>A | XP_016865455.1:p.Glu4308Lys | |
| XM_017009967.1:c.12907G>A | XP_016865456.1:p.Glu4303Lys | |
| XM_017009968.2:c.13003G>A | XP_016865457.1:p.Glu4335Lys | |
| XM_017009969.2:c.13003G>A | XP_016865458.1:p.Glu4335Lys | |
| XM_017009970.2:c.13003G>A | XP_016865459.1:p.Glu4335Lys | |
| XM_017009971.2:c.13003G>A | XP_016865460.1:p.Glu4335Lys | |
| XM_017009972.1:c.6121G>A | XP_016865461.1:p.Glu2041Lys | |
| XM_017009973.1:c.6100G>A | XP_016865462.1:p.Glu2034Lys | |
| NR_003149.2:n.12998G>A |