Linked Data
ClinVar Variation Id:
245869
dbSNP Id:
rs201970407
ExAC:
11:68705712 A / G
gnomAD v2:
11-68705712-A-G
gnomAD v3:
11-68938244-A-G
gnomAD v4:
11-68938244-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68938244A>G , CM000673.2:g.68938244A>G | GRCh38 |
| NC_000011.9:g.68705712A>G , CM000673.1:g.68705712A>G | GRCh37 |
| NC_000011.8:g.68462288A>G | NCBI36 |
| NG_007976.1:g.39394A>G , LRG_250:g.39394A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2674A>G MANE Select | ENSP00000255078.4:p.Lys892Glu | |
| ENST00000674675.1:c.819A>G | ||
| ENST00000674878.1:c.779A>G | ||
| ENST00000675118.1:c.2162A>G | ||
| ENST00000675615.1:c.2611+1153A>G | ENSP00000502413.1:n.2611+1153A>G | |
| ENST00000675648.1:n.2049A>G | ||
| ENST00000675916.1:c.918A>G | ||
| ENST00000676173.1:n.3419A>G | ||
| ENST00000255078.7:c.2674A>G | ENSP00000255078.3:p.Lys892Glu | |
| ENST00000543739.5:n.1667A>G | ||
| ENST00000544521.1:n.505A>G | ||
| NM_002180.2:c.2674A>G , LRG_250t1:c.2674A>G | NP_002171.2:p.Lys892Glu | |
| XM_005273974.2:c.1663A>G | XP_005274031.1:p.Lys555Glu | |
| XM_005273975.2:c.1546A>G | XP_005274032.1:p.Lys516Glu | |
| XM_011544994.1:c.1441A>G | XP_011543296.1:p.Lys481Glu | |
| XR_949903.1:n.2776A>G | ||
| XM_005273975.3:c.1546A>G | XP_005274032.1:p.Lys516Glu | |
| XM_017017669.2:c.1663A>G | XP_016873158.1:p.Lys555Glu | |
| XM_017017670.2:c.1663A>G | XP_016873159.1:p.Lys555Glu | |
| XR_949903.3:n.2772A>G | ||
| NM_002180.3:c.2674A>G MANE Select | NP_002171.2:p.Lys892Glu |