Linked Data
ClinVar Variation Id:
2440698
dbSNP Id:
rs754181564
ExAC:
3:49548155 C / T
gnomAD v2:
3-49548155-C-T
gnomAD v4:
3-49510722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49510722C>T , CM000665.2:g.49510722C>T | GRCh38 |
| NC_000003.11:g.49548155C>T , CM000665.1:g.49548155C>T | GRCh37 |
| NC_000003.10:g.49523159C>T | NCBI36 |
| NG_013230.3:g.45591C>T | |
| NG_013230.4:g.45591C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418588.6:c.188C>T | ENSP00000405859.2:p.Thr63Ile | |
| ENST00000421560.6:c.188C>T | ENSP00000412067.2:p.Thr63Ile | |
| ENST00000428779.7:c.188C>T | ENSP00000401382.3:p.Thr63Ile | |
| ENST00000430636.2:c.188C>T | ENSP00000401805.2:p.Thr63Ile | |
| ENST00000431960.6:c.188C>T | ENSP00000388833.2:p.Thr63Ile | |
| ENST00000435508.8:c.188C>T | ENSP00000415321.4:p.Thr63Ile | |
| ENST00000452060.7:c.188C>T | ENSP00000410145.3:p.Thr63Ile | |
| ENST00000452317.6:c.188C>T | ENSP00000387859.2:p.Thr63Ile | |
| ENST00000466701.2:c.188C>T | ENSP00000513216.1:p.Thr63Ile | |
| ENST00000469139.2:c.188C>T | ENSP00000501165.2:p.Thr63Ile | |
| ENST00000496474.2:c.188C>T | ENSP00000513217.1:p.Thr63Ile | |
| ENST00000697271.1:c.188C>T | ENSP00000513218.1:p.Thr63Ile | |
| ENST00000308775.7:c.188C>T MANE Select | ENSP00000312435.2:p.Thr63Ile | |
| ENST00000428779.6:c.188C>T | ENSP00000401382.2:p.Thr63Ile | |
| ENST00000435508.7:c.188C>T | ENSP00000415321.3:p.Thr63Ile | |
| ENST00000452060.6:c.188C>T | ENSP00000410145.2:p.Thr63Ile | |
| ENST00000673708.1:c.188C>T | ENSP00000501140.1:p.Thr63Ile | |
| ENST00000308775.6:c.188C>T | ENSP00000312435.2:p.Thr63Ile | |
| ENST00000418588.5:c.188C>T | ENSP00000405859.1:p.Thr63Ile | |
| ENST00000421560.5:c.188C>T | ENSP00000412067.1:p.Thr63Ile | |
| ENST00000428779.5:c.188C>T | ENSP00000401382.1:p.Thr63Ile | |
| ENST00000431960.5:c.188C>T | ENSP00000388833.1:p.Thr63Ile | |
| ENST00000435508.6:c.*31C>T | ENSP00000415321.2:n.*31C>T | |
| ENST00000452060.5:c.188C>T | ENSP00000410145.1:p.Thr63Ile | |
| ENST00000461492.1:n.165+267C>T | ||
| ENST00000475424.1:n.562C>T | ||
| ENST00000479935.1:n.499C>T | ||
| ENST00000515359.6:c.188C>T | ENSP00000440705.1:p.Thr63Ile | |
| ENST00000538711.5:c.188C>T | ENSP00000438421.1:p.Thr63Ile | |
| ENST00000539901.5:c.188C>T | ENSP00000439334.1:p.Thr63Ile | |
| ENST00000541308.5:c.188C>T | ENSP00000440590.1:p.Thr63Ile | |
| ENST00000545947.5:c.188C>T | ENSP00000442600.1:p.Thr63Ile | |
| NM_001165928.3:c.188C>T | NP_001159400.2:p.Thr63Ile | |
| NM_001177634.2:c.188C>T | NP_001171105.1:p.Thr63Ile | |
| NM_001177635.2:c.188C>T | NP_001171106.1:p.Thr63Ile | |
| NM_001177636.2:c.188C>T | NP_001171107.1:p.Thr63Ile | |
| NM_001177637.2:c.188C>T | NP_001171108.1:p.Thr63Ile | |
| NM_001177638.2:c.188C>T | NP_001171109.1:p.Thr63Ile | |
| NM_001177639.2:c.188C>T | NP_001171110.1:p.Thr63Ile | |
| NM_001177640.2:c.188C>T | NP_001171111.1:p.Thr63Ile | |
| NM_001177641.2:c.188C>T | NP_001171112.1:p.Thr63Ile | |
| NM_001177642.2:c.188C>T | NP_001171113.1:p.Thr63Ile | |
| NM_001177643.2:c.188C>T | NP_001171114.1:p.Thr63Ile | |
| NM_001177644.2:c.188C>T | NP_001171115.1:p.Thr63Ile | |
| NM_004393.5:c.188C>T | NP_004384.4:p.Thr63Ile | |
| NM_004393.6:c.188C>T MANE Select | NP_004384.5:p.Thr63Ile | |
| NM_001165928.4:c.188C>T | NP_001159400.3:p.Thr63Ile | |
| NM_001177634.3:c.188C>T | NP_001171105.2:p.Thr63Ile | |
| NM_001177635.3:c.188C>T | NP_001171106.2:p.Thr63Ile | |
| NM_001177636.3:c.188C>T | NP_001171107.2:p.Thr63Ile | |
| NM_001177637.3:c.188C>T | NP_001171108.2:p.Thr63Ile | |
| NM_001177638.3:c.188C>T | NP_001171109.2:p.Thr63Ile | |
| NM_001177639.3:c.188C>T | NP_001171110.2:p.Thr63Ile | |
| NM_001177640.3:c.188C>T | NP_001171111.2:p.Thr63Ile | |
| NM_001177641.3:c.188C>T | NP_001171112.2:p.Thr63Ile | |
| NM_001177642.3:c.188C>T | NP_001171113.2:p.Thr63Ile | |
| NM_001177643.3:c.188C>T | NP_001171114.2:p.Thr63Ile | |
| NM_001177644.3:c.188C>T | NP_001171115.2:p.Thr63Ile |