Linked Data
ClinVar Variation Id:
1525298
dbSNP Id:
rs753874335
gnomAD v3:
9-135770013-C-T
gnomAD v4:
9-135770013-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770013C>T , CM000671.2:g.135770013C>T | GRCh38 |
| NC_000009.11:g.138661859C>T , CM000671.1:g.138661859C>T | GRCh37 |
| NC_000009.10:g.137801680C>T | NCBI36 |
| NG_033070.1:g.72829C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1577C>T MANE Select | ENSP00000360822.2:p.Thr526Ile | |
| ENST00000674572.1:c.1418C>T | ENSP00000501742.1:p.Thr473Ile | |
| ENST00000675090.1:c.1325C>T | ENSP00000501833.1:p.Thr442Ile | |
| ENST00000675399.1:c.1325C>T | ENSP00000501932.1:p.Thr442Ile | |
| ENST00000676421.1:c.1334C>T | ENSP00000502322.1:p.Thr445Ile | |
| ENST00000263604.5:c.1478C>T | ENSP00000263604.4:p.Thr493Ile | |
| ENST00000371757.6:c.1577C>T | ENSP00000360822.2:p.Thr526Ile | |
| ENST00000460750.5:c.*1187C>T | ENSP00000418777.1:n.*1187C>T | |
| ENST00000486577.6:c.1460C>T | ENSP00000417578.3:p.Thr487Ile | |
| ENST00000487664.5:c.1577C>T | ENSP00000417851.2:p.Thr526Ile | |
| ENST00000488444.6:c.1520C>T | ENSP00000419007.3:p.Thr507Ile | |
| ENST00000490355.6:c.1520C>T | ENSP00000418003.3:p.Thr507Ile | |
| ENST00000490363.3:n.1396C>T | ||
| ENST00000491806.6:c.1520C>T | ENSP00000419086.3:p.Thr507Ile | |
| ENST00000628528.2:c.1442C>T | ENSP00000486374.1:p.Thr481Ile | |
| ENST00000630792.2:c.1418C>T | ENSP00000486486.1:p.Thr473Ile | |
| ENST00000631073.2:c.1520C>T | ENSP00000486130.1:p.Thr507Ile | |
| NM_001272003.1:c.1442C>T | NP_001258932.1:p.Thr481Ile | |
| NM_020822.2:c.1577C>T | NP_065873.2:p.Thr526Ile | |
| XM_011518877.1:c.1712C>T | XP_011517179.1:p.Thr571Ile | |
| XM_011518878.1:c.1721C>T | XP_011517180.1:p.Thr574Ile | |
| XM_011518879.1:c.1712C>T | XP_011517181.1:p.Thr571Ile | |
| XM_011518880.1:c.1478C>T | XP_011517182.1:p.Thr493Ile | |
| XM_011518881.1:c.1067C>T | XP_011517183.1:p.Thr356Ile | |
| XM_011518877.3:c.1712C>T | XP_011517179.1:p.Thr571Ile | |
| XM_011518878.3:c.1721C>T | XP_011517180.1:p.Thr574Ile | |
| XM_011518879.3:c.1712C>T | XP_011517181.1:p.Thr571Ile | |
| XM_011518881.3:c.1067C>T | XP_011517183.1:p.Thr356Ile | |
| XM_017014931.1:c.1511C>T | XP_016870420.1:p.Thr504Ile | |
| XM_017014932.1:c.1334C>T | XP_016870421.1:p.Thr445Ile | |
| XM_017014933.1:c.1067C>T | XP_016870422.1:p.Thr356Ile | |
| XM_024447617.1:c.1067C>T | XP_024303385.1:p.Thr356Ile | |
| XM_024447618.1:c.1067C>T | XP_024303386.1:p.Thr356Ile | |
| NM_020822.3:c.1577C>T MANE Select | NP_065873.2:p.Thr526Ile | |
| NM_001272003.2:c.1442C>T | NP_001258932.1:p.Thr481Ile |