Linked Data
dbSNP Id:
rs769685389
ExAC:
11:68704311 G / A
gnomAD v2:
11-68704311-G-A
gnomAD v4:
11-68936843-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936843G>A , CM000673.2:g.68936843G>A | GRCh38 |
| NC_000011.9:g.68704311G>A , CM000673.1:g.68704311G>A | GRCh37 |
| NC_000011.8:g.68460887G>A | NCBI36 |
| NG_007976.1:g.37993G>A , LRG_250:g.37993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2363G>A MANE Select | ENSP00000255078.4:p.Arg788Gln | |
| ENST00000674675.1:c.587+20G>A | ||
| ENST00000674878.1:c.547+60G>A | ||
| ENST00000674955.1:c.*1080G>A | ENSP00000502463.1:n.*1080G>A | |
| ENST00000675118.1:c.1851G>A | ||
| ENST00000675389.1:n.638G>A | ||
| ENST00000675615.1:c.2363G>A | ENSP00000502413.1:p.Arg788Gln | |
| ENST00000675648.1:n.1738G>A | ||
| ENST00000675916.1:c.607G>A | ||
| ENST00000676173.1:n.3108G>A | ||
| ENST00000676182.1:c.794G>A | ||
| ENST00000676228.1:c.*1686G>A | ENSP00000502375.1:n.*1686G>A | |
| ENST00000255078.7:c.2363G>A | ENSP00000255078.3:p.Arg788Gln | |
| ENST00000539064.5:n.2122G>A | ||
| ENST00000543739.5:n.1356G>A | ||
| NM_002180.2:c.2363G>A , LRG_250t1:c.2363G>A | NP_002171.2:p.Arg788Gln | |
| XM_005273974.2:c.1352G>A | XP_005274031.1:p.Arg451Gln | |
| XM_005273975.2:c.1235G>A | XP_005274032.1:p.Arg412Gln | |
| XM_011544994.1:c.1130G>A | XP_011543296.1:p.Arg377Gln | |
| XR_949903.1:n.2465G>A | ||
| XM_005273975.3:c.1235G>A | XP_005274032.1:p.Arg412Gln | |
| XM_017017669.2:c.1352G>A | XP_016873158.1:p.Arg451Gln | |
| XM_017017670.2:c.1352G>A | XP_016873159.1:p.Arg451Gln | |
| XR_949903.3:n.2461G>A | ||
| NM_002180.3:c.2363G>A MANE Select | NP_002171.2:p.Arg788Gln |