Linked Data
ClinVar Variation Id:
506812
dbSNP Id:
rs138607722
ExAC:
11:68705706 G / A
gnomAD v2:
11-68705706-G-A
gnomAD v3:
11-68938238-G-A
gnomAD v4:
11-68938238-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68938238G>A , CM000673.2:g.68938238G>A | GRCh38 |
| NC_000011.9:g.68705706G>A , CM000673.1:g.68705706G>A | GRCh37 |
| NC_000011.8:g.68462282G>A | NCBI36 |
| NG_007976.1:g.39388G>A , LRG_250:g.39388G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2668G>A MANE Select | ENSP00000255078.4:p.Ala890Thr | |
| ENST00000674675.1:c.813G>A | ||
| ENST00000674878.1:c.773G>A | ||
| ENST00000675118.1:c.2156G>A | ||
| ENST00000675615.1:c.2611+1147G>A | ENSP00000502413.1:n.2611+1147G>A | |
| ENST00000675648.1:n.2043G>A | ||
| ENST00000675916.1:c.912G>A | ||
| ENST00000676173.1:n.3413G>A | ||
| ENST00000255078.7:c.2668G>A | ENSP00000255078.3:p.Ala890Thr | |
| ENST00000543739.5:n.1661G>A | ||
| ENST00000544521.1:n.499G>A | ||
| NM_002180.2:c.2668G>A , LRG_250t1:c.2668G>A | NP_002171.2:p.Ala890Thr | |
| XM_005273974.2:c.1657G>A | XP_005274031.1:p.Ala553Thr | |
| XM_005273975.2:c.1540G>A | XP_005274032.1:p.Ala514Thr | |
| XM_011544994.1:c.1435G>A | XP_011543296.1:p.Ala479Thr | |
| XR_949903.1:n.2770G>A | ||
| XM_005273975.3:c.1540G>A | XP_005274032.1:p.Ala514Thr | |
| XM_017017669.2:c.1657G>A | XP_016873158.1:p.Ala553Thr | |
| XM_017017670.2:c.1657G>A | XP_016873159.1:p.Ala553Thr | |
| XR_949903.3:n.2766G>A | ||
| NM_002180.3:c.2668G>A MANE Select | NP_002171.2:p.Ala890Thr |