Linked Data
ClinVar Variation Id:
5357
dbSNP Id:
rs121908420
ExAC:
11:134131680 C / T
gnomAD v2:
11-134131680-C-T
gnomAD v3:
11-134261786-C-T
gnomAD v4:
11-134261786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134261786C>T , CM000673.2:g.134261786C>T | GRCh38 |
| NC_000011.9:g.134131680C>T , CM000673.1:g.134131680C>T | GRCh37 |
| NC_000011.8:g.133636890C>T | NCBI36 |
| NG_015842.1:g.13247C>T , LRG_448:g.13247C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281182.9:c.988C>T MANE Select | ENSP00000281182.5:p.Arg330Trp | |
| ENST00000281182.8:c.988C>T | ENSP00000281182.4:p.Arg330Trp | |
| ENST00000374752.6:c.607C>T | ENSP00000363884.4:p.Arg203Trp | |
| ENST00000524426.5:c.*718C>T | ENSP00000431310.1:n.*718C>T | |
| ENST00000524547.5:n.591C>T | ||
| ENST00000526026.5:c.*677C>T | ENSP00000431532.1:n.*677C>T | |
| ENST00000527665.5:n.1376C>T | ||
| ENST00000531338.5:n.844C>T | ||
| ENST00000533387.5:n.2047C>T | ||
| NM_014384.2:c.988C>T , LRG_448t1:c.988C>T | NP_055199.1:p.Arg330Trp | |
| XM_005271501.2:c.988C>T | XP_005271558.1:p.Arg330Trp | |
| XM_011542750.1:c.988C>T | XP_011541052.1:p.Arg330Trp | |
| XR_947819.1:n.1052C>T | ||
| XR_947820.1:n.1052C>T | ||
| XR_947821.1:n.1052C>T | ||
| XR_947822.1:n.882C>T | ||
| XR_947823.1:n.1038C>T | ||
| XM_005271505.4:c.*1253C>T | XP_005271562.1:n.*1253C>T | |
| XM_011542750.3:c.988C>T | XP_011541052.1:p.Arg330Trp | |
| XM_017017542.2:c.988C>T | XP_016873031.1:p.Arg330Trp | |
| XM_017017543.2:c.988C>T | XP_016873032.1:p.Arg330Trp | |
| XM_017017544.2:c.988C>T | XP_016873033.1:p.Arg330Trp | |
| XM_017017545.2:c.988C>T | XP_016873034.1:p.Arg330Trp | |
| XM_017017546.2:c.694C>T | XP_016873035.1:p.Arg232Trp | |
| XM_017017547.2:c.694C>T | XP_016873036.1:p.Arg232Trp | |
| XM_017017548.2:c.*1479C>T | XP_016873037.1:n.*1479C>T | |
| XM_017017549.2:c.*1253C>T | XP_016873038.1:n.*1253C>T | |
| XM_024448437.1:c.988C>T | XP_024304205.1:p.Arg330Trp | |
| XM_024448438.1:c.607C>T | XP_024304206.1:p.Arg203Trp | |
| NM_014384.3:c.988C>T MANE Select | NP_055199.1:p.Arg330Trp |