Linked Data
ClinVar Variation Id:
6291
ClinVar RCV Id:
RCV000006671
dbSNP Id:
rs28939709
ExAC:
11:68204455 G / A
gnomAD v2:
11-68204455-G-A
gnomAD v4:
11-68436987-G-A
COSMIC:
COSM4036124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68436987G>A , CM000673.2:g.68436987G>A | GRCh38 |
| NC_000011.9:g.68204455G>A , CM000673.1:g.68204455G>A | GRCh37 |
| NC_000011.8:g.67961031G>A | NCBI36 |
| NG_015835.1:g.129348G>A | |
| NG_015835.2:g.129348G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.4099G>A MANE Select | ENSP00000294304.6:p.Glu1367Lys | |
| ENST00000294304.11:c.4099G>A | ENSP00000294304.6:p.Glu1367Lys | |
| ENST00000529993.5:c.*2705G>A | ENSP00000436652.1:n.*2705G>A | |
| NM_001291902.1:c.2356G>A | NP_001278831.1:p.Glu786Lys | |
| NM_002335.3:c.4099G>A | NP_002326.2:p.Glu1367Lys | |
| XM_005273994.2:c.4099G>A | XP_005274051.1:p.Glu1367Lys | |
| XM_011545029.1:c.4126G>A | XP_011543331.1:p.Glu1376Lys | |
| XM_011545030.1:c.4126G>A | XP_011543332.1:p.Glu1376Lys | |
| XM_011545031.1:c.4126G>A | XP_011543333.1:p.Glu1376Lys | |
| XR_949925.1:n.4141G>A | ||
| XR_949926.1:n.4141G>A | ||
| XM_017017735.1:c.2356G>A | XP_016873224.1:p.Glu786Lys | |
| XM_017017736.1:c.1639G>A | XP_016873225.1:p.Glu547Lys | |
| XR_949925.2:n.4141G>A | ||
| XR_949926.2:n.4141G>A | ||
| NM_002335.4:c.4099G>A MANE Select | NP_002326.2:p.Glu1367Lys | |
| NM_001291902.2:c.2356G>A | NP_001278831.1:p.Glu786Lys |