Linked Data
ClinVar Variation Id:
402144
dbSNP Id:
rs773888308
ExAC:
10:50946295 G / A
gnomAD v2:
10-50946295-G-A
gnomAD v3:
10-49738249-G-A
gnomAD v4:
10-49738249-G-A
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49738249G>A , CM000672.2:g.49738249G>A | GRCh38 |
| NC_000010.10:g.50946295G>A , CM000672.1:g.50946295G>A | GRCh37 |
| NC_000010.9:g.50616301G>A | NCBI36 |
| NG_052636.1:g.29131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374103.9:c.2333C>T MANE Select | ENSP00000363216.4:p.Ser778Leu | |
| ENST00000374103.8:c.2333C>T | ENSP00000363216.4:p.Ser778Leu | |
| ENST00000419399.4:c.2162C>T | ENSP00000401356.1:p.Ser721Leu | |
| ENST00000432695.2:c.1706C>T | ENSP00000390240.1:p.Ser569Leu | |
| ENST00000490844.1:n.1251C>T | ||
| NM_001143996.1:c.2162C>T | NP_001137468.1:p.Ser721Leu | |
| NM_001143997.1:c.1706C>T | NP_001137469.1:p.Ser569Leu | |
| NM_018245.2:c.2333C>T | NP_060715.2:p.Ser778Leu | |
| XM_011539946.1:c.2333C>T | XP_011538248.1:p.Ser778Leu | |
| XM_011539947.1:c.2333C>T | XP_011538249.1:p.Ser778Leu | |
| XM_011539948.1:c.2333C>T | XP_011538250.1:p.Ser778Leu | |
| XM_011539949.1:c.2333C>T | XP_011538251.1:p.Ser778Leu | |
| NM_001347819.1:c.2333C>T | NP_001334748.1:p.Ser778Leu | |
| NM_001347820.1:c.2162C>T | NP_001334749.1:p.Ser721Leu | |
| NM_001347821.1:c.1706C>T | NP_001334750.1:p.Ser569Leu | |
| NM_001347822.1:c.1706C>T | NP_001334751.1:p.Ser569Leu | |
| NM_001347823.1:c.2153C>T | NP_001334752.1:p.Ser718Leu | |
| NM_001347824.1:c.2153C>T | NP_001334753.1:p.Ser718Leu | |
| NM_001347825.1:c.1526C>T | NP_001334754.1:p.Ser509Leu | |
| NM_001347826.1:c.1136C>T | NP_001334755.1:p.Ser379Leu | |
| NR_144682.1:n.2304C>T | ||
| NR_144683.1:n.2475C>T | ||
| NR_144684.1:n.2213C>T | ||
| NR_144685.1:n.2099C>T | ||
| NR_144686.1:n.2384C>T | ||
| XM_011539946.2:c.2333C>T | XP_011538248.1:p.Ser778Leu | |
| XM_017016402.1:c.1316C>T | XP_016871891.1:p.Ser439Leu | |
| XM_017016403.1:c.1316C>T | XP_016871892.1:p.Ser439Leu | |
| NM_018245.3:c.2333C>T MANE Select | NP_060715.2:p.Ser778Leu | |
| NM_001347821.2:c.1706C>T | NP_001334750.1:p.Ser569Leu | |
| NM_001347824.2:c.2153C>T | NP_001334753.1:p.Ser718Leu | |
| NM_001347825.2:c.1526C>T | NP_001334754.1:p.Ser509Leu | |
| NR_144682.2:n.2248C>T | ||
| NR_144683.2:n.2419C>T | ||
| NR_144684.2:n.2157C>T | ||
| NR_144685.2:n.2043C>T | ||
| NR_144686.2:n.2328C>T | ||
| NM_001143996.2:c.2162C>T | NP_001137468.1:p.Ser721Leu | |
| NM_001143997.2:c.1706C>T | NP_001137469.1:p.Ser569Leu |