Linked Data
ClinVar Variation Id:
476928
dbSNP Id:
rs375669985
ExAC:
11:9838477 C / T
gnomAD v2:
11-9838477-C-T
gnomAD v3:
11-9816930-C-T
gnomAD v4:
11-9816930-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9816930C>T , CM000673.2:g.9816930C>T | GRCh38 |
| NC_000011.9:g.9838477C>T , CM000673.1:g.9838477C>T | GRCh37 |
| NC_000011.8:g.9795053C>T | NCBI36 |
| NG_008074.1:g.482278G>A , LRG_267:g.482278G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.372G>A | ||
| ENST00000530741.2:c.2451G>A | ENSP00000432643.2:p.Ser817= | |
| ENST00000532095.2:n.424G>A | ||
| ENST00000675281.2:c.3963G>A | ENSP00000502491.1:p.Ser1321= | |
| ENST00000676324.2:c.*196G>A | ENSP00000502578.1:n.*196G>A | |
| ENST00000676387.2:c.3945G>A | ENSP00000502779.1:p.Ser1315= | |
| ENST00000688344.1:c.3495G>A | ENSP00000509987.1:p.Ser1165= | |
| ENST00000689128.1:c.3984G>A | ENSP00000509587.1:p.Ser1328= | |
| ENST00000689258.1:c.3825G>A | ENSP00000510475.1:p.Ser1275= | |
| ENST00000689342.1:c.95G>A | ||
| ENST00000689356.1:n.1059G>A | ||
| ENST00000689597.1:c.2592G>A | ENSP00000510781.1:p.Ser864= | |
| ENST00000689940.1:c.3882G>A | ENSP00000508452.1:p.Ser1294= | |
| ENST00000690944.1:c.95G>A | ||
| ENST00000691616.1:n.372G>A | ||
| ENST00000692716.1:c.3759G>A | ENSP00000509545.1:p.Ser1253= | |
| ENST00000693541.1:n.807G>A | ||
| ENST00000256190.13:c.3888G>A MANE Select | ENSP00000256190.8:p.Ser1296= | |
| ENST00000675281.1:c.3963G>A | ENSP00000502491.1:p.Ser1321= | |
| ENST00000676324.1:c.*196G>A | ENSP00000502578.1:n.*196G>A | |
| ENST00000676387.1:c.3945G>A | ENSP00000502779.1:p.Ser1315= | |
| ENST00000256190.12:c.3888G>A | ENSP00000256190.8:p.Ser1296= | |
| ENST00000524961.5:n.372G>A | ||
| ENST00000530741.1:c.635G>A | ||
| ENST00000533584.1:n.408G>A | ||
| ENST00000617179.4:c.3747G>A | ENSP00000482806.1:p.Ser1249= | |
| NM_030962.3:c.3888G>A , LRG_267t1:c.3888G>A | NP_112224.1:p.Ser1296= | |
| XM_005253154.3:c.3984G>A | XP_005253211.1:p.Ser1328= | |
| XM_005253155.3:c.3855G>A | XP_005253212.1:p.Ser1285= | |
| XM_011520394.1:c.3870G>A | XP_011518696.1:p.Ser1290= | |
| XM_005253154.5:c.3984G>A | XP_005253211.1:p.Ser1328= | |
| XM_005253155.5:c.3855G>A | XP_005253212.1:p.Ser1285= | |
| XM_011520394.3:c.3870G>A | XP_011518696.1:p.Ser1290= | |
| XM_017018372.2:c.3846G>A | XP_016873861.1:p.Ser1282= | |
| XM_017018373.2:c.3846G>A | XP_016873862.1:p.Ser1282= | |
| XM_017018374.2:c.3759G>A | XP_016873863.1:p.Ser1253= | |
| XM_017018375.2:c.3747G>A | XP_016873864.1:p.Ser1249= | |
| XR_001747994.2:n.4122G>A | ||
| NM_001386339.1:c.3984G>A | NP_001373268.1:p.Ser1328= | |
| NM_001386342.1:c.3759G>A | NP_001373271.1:p.Ser1253= | |
| NM_030962.4:c.3888G>A MANE Select | NP_112224.1:p.Ser1296= |