Linked Data
ClinVar Variation Id:
260724
dbSNP Id:
rs3765524
ExAC:
10:96058298 C / T
gnomAD:
10:96058298 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298541C>T , CM000672.2:g.94298541C>T | GRCh38 |
| NC_000010.10:g.96058298C>T , CM000672.1:g.96058298C>T | GRCh37 |
| NC_000010.9:g.96048288C>T | NCBI36 |
| NG_015799.1:g.309553C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001165979.2:c.4406C>T | NP_001159451.1:p.Thr1469Ile | |
| NM_001288989.1:c.5282C>T | NP_001275918.1:p.Thr1761Ile | |
| NM_016341.3:c.5330C>T | NP_057425.3:p.Thr1777Ile | |
| XM_006717885.2:c.5372C>T | XP_006717948.1:p.Thr1791Ile | |
| XM_006717886.2:c.5372C>T | XP_006717949.1:p.Thr1791Ile | |
| XM_006717888.2:c.5369C>T | XP_006717951.1:p.Thr1790Ile | |
| XM_006717889.2:c.5324C>T | XP_006717952.1:p.Thr1775Ile | |
| XM_006717890.1:c.4448C>T | XP_006717953.1:p.Thr1483Ile | |
| XM_011539849.1:c.5372C>T | XP_011538151.1:p.Thr1791Ile | |
| XM_011539850.1:c.4217C>T | XP_011538152.1:p.Thr1406Ile | |
| XM_006717885.4:c.5372C>T | XP_006717948.1:p.Thr1791Ile | |
| XM_006717888.4:c.5369C>T | XP_006717951.1:p.Thr1790Ile | |
| XM_006717889.4:c.5324C>T | XP_006717952.1:p.Thr1775Ile | |
| XM_006717890.3:c.4448C>T | XP_006717953.1:p.Thr1483Ile | |
| XM_011539849.3:c.5372C>T | XP_011538151.1:p.Thr1791Ile | |
| XM_011539850.3:c.4217C>T | XP_011538152.1:p.Thr1406Ile | |
| XM_017016310.2:c.5372C>T | XP_016871799.1:p.Thr1791Ile | |
| XM_017016311.2:c.5372C>T | XP_016871800.1:p.Thr1791Ile | |
| XM_017016312.2:c.4358C>T | XP_016871801.1:p.Thr1453Ile | |
| NM_001288989.2:c.5282C>T | NP_001275918.1:p.Thr1761Ile | |
| NM_016341.4:c.5330C>T MANE Select | NP_057425.3:p.Thr1777Ile | |
| ENST00000260766.7:c.5330C>T | ENSP00000260766.3:p.Thr1777Ile | |
| ENST00000371375.1:n.4406C>T | ENSP00000360426.1:p.Thr1469Ile | |
| ENST00000371380.7:c.5330C>T | ENSP00000360431.2:p.Thr1777Ile | |
| ENST00000371385.7:c.4406C>T | ENSP00000360438.3:p.Thr1469Ile |