Linked Data
ClinVar Variation Id:
241612
dbSNP Id:
rs769205402
ExAC:
11:9834127 T / G
gnomAD v2:
11-9834127-T-G
gnomAD v3:
11-9812580-T-G
gnomAD v4:
11-9812580-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9812580T>G , CM000673.2:g.9812580T>G | GRCh38 |
| NC_000011.9:g.9834127T>G , CM000673.1:g.9834127T>G | GRCh37 |
| NC_000011.8:g.9790703T>G | NCBI36 |
| NG_008074.1:g.486628A>C , LRG_267:g.486628A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.591A>C | ||
| ENST00000530741.2:c.2670A>C | ENSP00000432643.2:p.Ser890= | |
| ENST00000532095.2:n.643A>C | ||
| ENST00000675281.2:c.4182A>C | ENSP00000502491.1:p.Ser1394= | |
| ENST00000676324.2:c.*415A>C | ENSP00000502578.1:n.*415A>C | |
| ENST00000676387.2:c.4164A>C | ENSP00000502779.1:p.Ser1388= | |
| ENST00000688344.1:c.3714A>C | ENSP00000509987.1:p.Ser1238= | |
| ENST00000689128.1:c.4203A>C | ENSP00000509587.1:p.Ser1401= | |
| ENST00000689258.1:c.4044A>C | ENSP00000510475.1:p.Ser1348= | |
| ENST00000689342.1:c.314A>C | ||
| ENST00000689356.1:n.1278A>C | ||
| ENST00000689597.1:c.2811A>C | ENSP00000510781.1:p.Ser937= | |
| ENST00000689940.1:c.4101A>C | ENSP00000508452.1:p.Ser1367= | |
| ENST00000690944.1:c.314A>C | ||
| ENST00000691616.1:n.591A>C | ||
| ENST00000692716.1:c.3978A>C | ENSP00000509545.1:p.Ser1326= | |
| ENST00000693541.1:n.1026A>C | ||
| ENST00000256190.13:c.4107A>C MANE Select | ENSP00000256190.8:p.Ser1369= | |
| ENST00000675281.1:c.4182A>C | ENSP00000502491.1:p.Ser1394= | |
| ENST00000676324.1:c.*415A>C | ENSP00000502578.1:n.*415A>C | |
| ENST00000676387.1:c.4164A>C | ENSP00000502779.1:p.Ser1388= | |
| ENST00000256190.12:c.4107A>C | ENSP00000256190.8:p.Ser1369= | |
| ENST00000528478.1:n.175A>C | ||
| ENST00000530741.1:c.854A>C | ||
| ENST00000617179.4:c.3966A>C | ENSP00000482806.1:p.Ser1322= | |
| NM_030962.3:c.4107A>C , LRG_267t1:c.4107A>C | NP_112224.1:p.Ser1369= | |
| XM_005253154.3:c.4203A>C | XP_005253211.1:p.Ser1401= | |
| XM_005253155.3:c.4074A>C | XP_005253212.1:p.Ser1358= | |
| XM_011520394.1:c.4089A>C | XP_011518696.1:p.Ser1363= | |
| XM_005253154.5:c.4203A>C | XP_005253211.1:p.Ser1401= | |
| XM_005253155.5:c.4074A>C | XP_005253212.1:p.Ser1358= | |
| XM_011520394.3:c.4089A>C | XP_011518696.1:p.Ser1363= | |
| XM_017018372.2:c.4065A>C | XP_016873861.1:p.Ser1355= | |
| XM_017018373.2:c.4065A>C | XP_016873862.1:p.Ser1355= | |
| XM_017018374.2:c.3978A>C | XP_016873863.1:p.Ser1326= | |
| XM_017018375.2:c.3966A>C | XP_016873864.1:p.Ser1322= | |
| XR_001747994.2:n.4341A>C | ||
| NM_001386339.1:c.4203A>C | NP_001373268.1:p.Ser1401= | |
| NM_001386342.1:c.3978A>C | NP_001373271.1:p.Ser1326= | |
| NM_030962.4:c.4107A>C MANE Select | NP_112224.1:p.Ser1369= |