Linked Data
ClinVar Variation Id:
137195
dbSNP Id:
rs505760
ExAC:
6:52329845 G / A
gnomAD v2:
6-52329845-G-A
gnomAD v3:
6-52465047-G-A
gnomAD v4:
6-52465047-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52465047G>A , CM000668.2:g.52465047G>A | GRCh38 |
| NC_000006.11:g.52329845G>A , CM000668.1:g.52329845G>A | GRCh37 |
| NC_000006.10:g.52437804G>A | NCBI36 |
| NG_016760.1:g.49852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1069G>A MANE Select | ENSP00000360107.4:p.Glu357Lys | |
| ENST00000480623.6:c.1069G>A | ENSP00000434498.2:p.Glu357Lys | |
| ENST00000635760.1:c.745G>A | ENSP00000489765.1:p.Glu249Lys | |
| ENST00000635812.1:c.*370G>A | ENSP00000490859.1:n.*370G>A | |
| ENST00000635866.1:c.*938G>A | ENSP00000489866.1:n.*938G>A | |
| ENST00000635911.1:n.2587G>A | ||
| ENST00000635984.1:c.745G>A | ENSP00000489921.1:p.Glu249Lys | |
| ENST00000635996.1:c.1069G>A | ENSP00000490256.1:p.Glu357Lys | |
| ENST00000636107.1:c.1069G>A | ENSP00000489680.1:p.Glu357Lys | |
| ENST00000636311.1:n.963G>A | ||
| ENST00000636343.1:c.735G>A | ||
| ENST00000636379.1:c.781G>A | ENSP00000490622.1:p.Glu261Lys | |
| ENST00000636398.1:c.769G>A | ENSP00000489654.1:n.769G>A | |
| ENST00000636489.1:c.1012G>A | ENSP00000489998.1:p.Glu338Lys | |
| ENST00000636616.1:n.685G>A | ||
| ENST00000636702.1:c.1039G>A | ENSP00000489623.1:p.Glu347Lys | |
| ENST00000636954.1:c.1012G>A | ENSP00000489966.1:p.Glu338Lys | |
| ENST00000637089.1:c.1069G>A | ENSP00000489854.1:p.Glu357Lys | |
| ENST00000637263.1:c.1069G>A | ENSP00000489700.1:p.Glu357Lys | |
| ENST00000637340.1:n.2994G>A | ||
| ENST00000637353.1:c.1069G>A | ENSP00000490441.1:p.Glu357Lys | |
| ENST00000637602.1:c.*770G>A | ENSP00000490074.1:n.*770G>A | |
| ENST00000637849.1:n.1133G>A | ||
| ENST00000637874.1:c.83-4286G>A | ENSP00000490348.1:n.83-4286G>A | |
| ENST00000637892.1:n.1273G>A | ||
| ENST00000371068.9:c.1069G>A | ENSP00000360107.4:p.Glu357Lys | |
| ENST00000480623.5:c.*1489G>A | ENSP00000434498.1:n.*1489G>A | |
| ENST00000538167.2:c.1012G>A | ENSP00000444521.1:p.Glu338Lys | |
| NM_001172420.1:c.1012G>A | NP_001165891.1:p.Glu338Lys | |
| NM_018100.3:c.1069G>A | NP_060570.2:p.Glu357Lys | |
| NR_033327.1:n.2541G>A | ||
| NM_018100.4:c.1069G>A MANE Select | NP_060570.2:p.Glu357Lys | |
| NM_001172420.2:c.1012G>A | NP_001165891.1:p.Glu338Lys | |
| NR_033327.2:n.2395G>A |