Linked Data
ClinVar Variation Id:
295728
dbSNP Id:
rs576324046
ExAC:
1:22160075 C / T
gnomAD v2:
1-22160075-C-T
gnomAD v3:
1-21833582-C-T
gnomAD v4:
1-21833582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21833582C>T , CM000663.2:g.21833582C>T | GRCh38 |
| NC_000001.10:g.22160075C>T , CM000663.1:g.22160075C>T | GRCh37 |
| NC_000001.9:g.22032662C>T | NCBI36 |
| NG_016740.1:g.108676G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.10863G>A MANE Select | ENSP00000363827.3:p.Leu3621= | |
| ENST00000374695.7:c.10863G>A | ENSP00000363827.3:p.Leu3621= | |
| ENST00000471322.2:n.1218G>A | ||
| NM_001291860.1:c.10866G>A | NP_001278789.1:p.Leu3622= | |
| NM_005529.6:c.10863G>A | NP_005520.4:p.Leu3621= | |
| XM_006710594.2:c.11409G>A | XP_006710657.1:p.Leu3803= | |
| XM_006710595.2:c.11361G>A | XP_006710658.1:p.Leu3787= | |
| XM_006710596.2:c.11340G>A | XP_006710659.1:p.Leu3780= | |
| XM_006710597.2:c.10863G>A | XP_006710660.1:p.Leu3621= | |
| XM_011541317.1:c.11412G>A | XP_011539619.1:p.Leu3804= | |
| XM_011541318.1:c.11412G>A | XP_011539620.1:p.Leu3804= | |
| XM_011541319.1:c.11412G>A | XP_011539621.1:p.Leu3804= | |
| XM_011541320.1:c.11133G>A | XP_011539622.1:p.Leu3711= | |
| XM_011541321.1:c.10917G>A | XP_011539623.1:p.Leu3639= | |
| XM_011541318.2:c.11412G>A | XP_011539620.1:p.Leu3804= | |
| XM_017001120.1:c.11058G>A | XP_016856609.1:p.Leu3686= | |
| XM_017001121.1:c.11007G>A | XP_016856610.1:p.Leu3669= | |
| XM_017001122.1:c.11004G>A | XP_016856611.1:p.Leu3668= | |
| NM_005529.7:c.10863G>A MANE Select | NP_005520.4:p.Leu3621= | |
| NM_001291860.2:c.10866G>A | NP_001278789.1:p.Leu3622= |