Linked Data
dbSNP Id:
rs762546267
ExAC:
11:68704436 C / A
gnomAD v2:
11-68704436-C-A
gnomAD v4:
11-68936968-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936968C>A , CM000673.2:g.68936968C>A | GRCh38 |
| NC_000011.9:g.68704436C>A , CM000673.1:g.68704436C>A | GRCh37 |
| NC_000011.8:g.68461012C>A | NCBI36 |
| NG_007976.1:g.38118C>A , LRG_250:g.38118C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2488C>A MANE Select | ENSP00000255078.4:p.Leu830Met | |
| ENST00000674675.1:c.633C>A | ||
| ENST00000674878.1:c.593C>A | ||
| ENST00000675118.1:c.1976C>A | ||
| ENST00000675389.1:n.763C>A | ||
| ENST00000675615.1:c.2488C>A | ENSP00000502413.1:p.Leu830Met | |
| ENST00000675648.1:n.1863C>A | ||
| ENST00000675916.1:c.732C>A | ||
| ENST00000676173.1:n.3233C>A | ||
| ENST00000676182.1:c.919C>A | ||
| ENST00000676228.1:c.*1811C>A | ENSP00000502375.1:n.*1811C>A | |
| ENST00000255078.7:c.2488C>A | ENSP00000255078.3:p.Leu830Met | |
| ENST00000539064.5:n.2247C>A | ||
| ENST00000543739.5:n.1481C>A | ||
| NM_002180.2:c.2488C>A , LRG_250t1:c.2488C>A | NP_002171.2:p.Leu830Met | |
| XM_005273974.2:c.1477C>A | XP_005274031.1:p.Leu493Met | |
| XM_005273975.2:c.1360C>A | XP_005274032.1:p.Leu454Met | |
| XM_011544994.1:c.1255C>A | XP_011543296.1:p.Leu419Met | |
| XR_949903.1:n.2590C>A | ||
| XM_005273975.3:c.1360C>A | XP_005274032.1:p.Leu454Met | |
| XM_017017669.2:c.1477C>A | XP_016873158.1:p.Leu493Met | |
| XM_017017670.2:c.1477C>A | XP_016873159.1:p.Leu493Met | |
| XR_949903.3:n.2586C>A | ||
| NM_002180.3:c.2488C>A MANE Select | NP_002171.2:p.Leu830Met |