Linked Data
ClinVar Variation Id:
1407099
ClinVar RCV Id:
RCV001918261
dbSNP Id:
rs2134881991
gnomAD v4:
11-119092792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092792C>T , CM000673.2:g.119092792C>T | GRCh38 |
| NC_000011.9:g.118963502C>T , CM000673.1:g.118963502C>T | GRCh37 |
| NC_000011.8:g.118468712C>T | NCBI36 |
| NG_008093.1:g.12916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.641C>T | ENSP00000509288.1:p.Thr214Ile | |
| ENST00000691144.1:n.3021C>T | ||
| ENST00000691249.1:n.1630C>T | ||
| ENST00000442944.7:c.788C>T | ENSP00000392041.3:p.Thr263Ile | |
| ENST00000640813.1:c.*43C>T | ENSP00000491061.1:n.*43C>T | |
| ENST00000648026.1:c.700C>T | ENSP00000498044.1:n.700C>T | |
| ENST00000648374.1:c.755C>T | ENSP00000497255.1:p.Thr252Ile | |
| ENST00000649823.1:n.1263C>T | ||
| ENST00000650101.1:c.737C>T | ENSP00000496970.1:p.Thr246Ile | |
| ENST00000650307.1:n.1632C>T | ||
| ENST00000652429.1:c.806C>T MANE Select | ENSP00000498786.1:p.Thr269Ile | |
| ENST00000278715.7:c.806C>T | ENSP00000278715.3:p.Thr269Ile | |
| ENST00000392841.1:c.755C>T | ENSP00000376584.1:p.Thr252Ile | |
| ENST00000442944.6:c.755C>T | ENSP00000392041.2:p.Thr252Ile | |
| ENST00000537841.5:c.755C>T | ENSP00000444730.1:p.Thr252Ile | |
| ENST00000539045.1:n.182C>T | ||
| ENST00000542044.5:n.1251C>T | ||
| ENST00000542729.5:c.635C>T | ENSP00000443058.1:p.Thr212Ile | |
| ENST00000543090.5:c.713C>T | ENSP00000445429.1:p.Thr238Ile | |
| ENST00000543543.5:n.1281C>T | ||
| ENST00000544182.1:n.1255C>T | ||
| ENST00000544387.5:c.686C>T | ENSP00000438424.1:p.Thr229Ile | |
| ENST00000546226.5:n.1568C>T | ||
| NM_000190.3:c.806C>T | NP_000181.2:p.Thr269Ile | |
| NM_001024382.1:c.755C>T | NP_001019553.1:p.Thr252Ile | |
| NM_001258208.1:c.686C>T | NP_001245137.1:p.Thr229Ile | |
| NM_001258209.1:c.635C>T | NP_001245138.1:p.Thr212Ile | |
| XM_005271531.1:c.755C>T | XP_005271588.1:p.Thr252Ile | |
| XM_005271532.1:c.755C>T | XP_005271589.1:p.Thr252Ile | |
| XM_005271533.2:c.752C>T | XP_005271590.1:p.Thr251Ile | |
| XM_011542796.1:c.641C>T | XP_011541098.1:p.Thr214Ile | |
| NM_000190.4:c.806C>T MANE Select | NP_000181.2:p.Thr269Ile | |
| NM_001024382.2:c.755C>T | NP_001019553.1:p.Thr252Ile | |
| XM_005271533.3:c.752C>T | XP_005271590.1:p.Thr251Ile | |
| XM_017017629.1:c.755C>T | XP_016873118.1:p.Thr252Ile | |
| XM_024448460.1:c.632C>T | XP_024304228.1:p.Thr211Ile | |
| NM_001258208.2:c.686C>T | NP_001245137.1:p.Thr229Ile | |
| NM_001258209.2:c.635C>T | NP_001245138.1:p.Thr212Ile |