Linked Data
ClinVar Variation Id:
2101077
ClinVar RCV Id:
RCV003026041
dbSNP Id:
rs1185192267
gnomAD v2:
9-138662266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770420C>T , CM000671.2:g.135770420C>T | GRCh38 |
| NC_000009.11:g.138662266C>T , CM000671.1:g.138662266C>T | GRCh37 |
| NC_000009.10:g.137802087C>T | NCBI36 |
| NG_033070.1:g.73236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1742C>T MANE Select | ENSP00000360822.2:p.Thr581Ile | |
| ENST00000674572.1:c.1583C>T | ENSP00000501742.1:p.Thr528Ile | |
| ENST00000675090.1:c.1490C>T | ENSP00000501833.1:p.Thr497Ile | |
| ENST00000675399.1:c.1490C>T | ENSP00000501932.1:p.Thr497Ile | |
| ENST00000676421.1:c.1499C>T | ENSP00000502322.1:p.Thr500Ile | |
| ENST00000263604.5:c.1643C>T | ENSP00000263604.4:p.Thr548Ile | |
| ENST00000371757.6:c.1742C>T | ENSP00000360822.2:p.Thr581Ile | |
| ENST00000460750.5:c.*1352C>T | ENSP00000418777.1:n.*1352C>T | |
| ENST00000486577.6:c.1625C>T | ENSP00000417578.3:p.Thr542Ile | |
| ENST00000487664.5:c.1742C>T | ENSP00000417851.2:p.Thr581Ile | |
| ENST00000488444.6:c.1685C>T | ENSP00000419007.3:p.Thr562Ile | |
| ENST00000490355.6:c.1685C>T | ENSP00000418003.3:p.Thr562Ile | |
| ENST00000490363.3:n.1561C>T | ||
| ENST00000491806.6:c.1685C>T | ENSP00000419086.3:p.Thr562Ile | |
| ENST00000628528.2:c.1607C>T | ENSP00000486374.1:p.Thr536Ile | |
| ENST00000630792.2:c.1583C>T | ENSP00000486486.1:p.Thr528Ile | |
| ENST00000631073.2:c.1685C>T | ENSP00000486130.1:p.Thr562Ile | |
| NM_001272003.1:c.1607C>T | NP_001258932.1:p.Thr536Ile | |
| NM_020822.2:c.1742C>T | NP_065873.2:p.Thr581Ile | |
| XM_011518877.1:c.1877C>T | XP_011517179.1:p.Thr626Ile | |
| XM_011518878.1:c.1886C>T | XP_011517180.1:p.Thr629Ile | |
| XM_011518879.1:c.1877C>T | XP_011517181.1:p.Thr626Ile | |
| XM_011518880.1:c.1643C>T | XP_011517182.1:p.Thr548Ile | |
| XM_011518881.1:c.1232C>T | XP_011517183.1:p.Thr411Ile | |
| XM_011518877.3:c.1877C>T | XP_011517179.1:p.Thr626Ile | |
| XM_011518878.3:c.1886C>T | XP_011517180.1:p.Thr629Ile | |
| XM_011518879.3:c.1877C>T | XP_011517181.1:p.Thr626Ile | |
| XM_011518881.3:c.1232C>T | XP_011517183.1:p.Thr411Ile | |
| XM_017014931.1:c.1676C>T | XP_016870420.1:p.Thr559Ile | |
| XM_017014932.1:c.1499C>T | XP_016870421.1:p.Thr500Ile | |
| XM_017014933.1:c.1232C>T | XP_016870422.1:p.Thr411Ile | |
| XM_024447617.1:c.1232C>T | XP_024303385.1:p.Thr411Ile | |
| XM_024447618.1:c.1232C>T | XP_024303386.1:p.Thr411Ile | |
| NM_020822.3:c.1742C>T MANE Select | NP_065873.2:p.Thr581Ile | |
| NM_001272003.2:c.1607C>T | NP_001258932.1:p.Thr536Ile |