Linked Data
ClinVar Variation Id:
246570
dbSNP Id:
rs149824485
ExAC:
11:68707054 G / A
gnomAD v2:
11-68707054-G-A
gnomAD v3:
11-68939586-G-A
gnomAD v4:
11-68939586-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939586G>A , CM000673.2:g.68939586G>A | GRCh38 |
| NC_000011.9:g.68707054G>A , CM000673.1:g.68707054G>A | GRCh37 |
| NC_000011.8:g.68463630G>A | NCBI36 |
| NG_007976.1:g.40736G>A , LRG_250:g.40736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2837G>A MANE Select | ENSP00000255078.4:p.Arg946Gln | |
| ENST00000675118.1:c.2325G>A | ||
| ENST00000675615.1:c.*36G>A | ENSP00000502413.1:n.*36G>A | |
| ENST00000675648.1:n.2399G>A | ||
| ENST00000675916.1:c.1268G>A | ||
| ENST00000676173.1:n.3582G>A | ||
| ENST00000255078.7:c.2837G>A | ENSP00000255078.3:p.Arg946Gln | |
| ENST00000543739.5:n.1830G>A | ||
| ENST00000544521.1:n.668G>A | ||
| NM_002180.2:c.2837G>A , LRG_250t1:c.2837G>A | NP_002171.2:p.Arg946Gln | |
| XM_005273974.2:c.1826G>A | XP_005274031.1:p.Arg609Gln | |
| XM_005273975.2:c.1709G>A | XP_005274032.1:p.Arg570Gln | |
| XM_011544994.1:c.1604G>A | XP_011543296.1:p.Arg535Gln | |
| XR_949903.1:n.3126G>A | ||
| XM_005273975.3:c.1709G>A | XP_005274032.1:p.Arg570Gln | |
| XM_017017669.2:c.1826G>A | XP_016873158.1:p.Arg609Gln | |
| XM_017017670.2:c.1826G>A | XP_016873159.1:p.Arg609Gln | |
| XR_949903.3:n.3122G>A | ||
| NM_002180.3:c.2837G>A MANE Select | NP_002171.2:p.Arg946Gln |