Linked Data
ClinVar Variation Id:
263204
dbSNP Id:
rs200607541
ExAC:
1:976598 C / T
gnomAD v2:
1-976598-C-T
gnomAD v3:
1-1041218-C-T
gnomAD v4:
1-1041218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1041218C>T , CM000663.2:g.1041218C>T | GRCh38 |
| NC_000001.10:g.976598C>T , CM000663.1:g.976598C>T | GRCh37 |
| NC_000001.9:g.966461C>T | NCBI36 |
| NG_016346.1:g.26096C>T , LRG_198:g.26096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.773C>T MANE Select | ENSP00000368678.2:p.Thr258Ile | |
| ENST00000651234.1:c.458C>T | ENSP00000499046.1:p.Thr153Ile | |
| ENST00000652369.1:c.458C>T | ENSP00000498543.1:p.Thr153Ile | |
| ENST00000379370.6:c.773C>T | ENSP00000368678.2:p.Thr258Ile | |
| ENST00000469403.1:n.720C>T | ||
| ENST00000620552.4:c.359C>T | ENSP00000484607.1:p.Thr120Ile | |
| NM_001305275.1:c.773C>T | NP_001292204.1:p.Thr258Ile | |
| NM_198576.3:c.773C>T | NP_940978.2:p.Thr258Ile | |
| XM_005244749.2:c.773C>T | XP_005244806.1:p.Thr258Ile | |
| XM_006710635.2:c.773C>T | XP_006710698.1:p.Thr258Ile | |
| XM_011541429.1:c.773C>T | XP_011539731.1:p.Thr258Ile | |
| XM_011541430.1:c.512-2021C>T | XP_011539732.1:n.512-2021C>T | |
| XR_946650.1:n.840C>T | ||
| NM_001364727.1:c.458C>T | NP_001351656.1:p.Thr153Ile | |
| XM_005244749.3:c.773C>T | XP_005244806.1:p.Thr258Ile | |
| XM_011541429.2:c.773C>T | XP_011539731.1:p.Thr258Ile | |
| XR_946650.2:n.844C>T | ||
| NM_001305275.2:c.773C>T | NP_001292204.1:p.Thr258Ile | |
| NM_198576.4:c.773C>T MANE Select | NP_940978.2:p.Thr258Ile | |
| NM_001364727.2:c.458C>T | NP_001351656.1:p.Thr153Ile |