Linked Data
ClinVar Variation Id:
1336951
dbSNP Id:
rs143004535
ExAC:
19:36592659 C / T
gnomAD v2:
19-36592659-C-T
gnomAD v3:
19-36101757-C-T
gnomAD v4:
19-36101757-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36101757C>T , CM000681.2:g.36101757C>T | GRCh38 |
| NC_000019.9:g.36592659C>T , CM000681.1:g.36592659C>T | GRCh37 |
| NC_000019.8:g.41284499C>T | NCBI36 |
| NG_028101.1:g.51877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3065C>T | ENSP00000270301.6:p.Ser1022Leu | |
| ENST00000401500.7:c.3065C>T MANE Select | ENSP00000384792.1:p.Ser1022Leu | |
| ENST00000587391.6:c.*2101C>T | ENSP00000465525.1:n.*2101C>T | |
| ENST00000679357.1:c.855C>T | ||
| ENST00000679422.1:c.762-257C>T | ||
| ENST00000679682.1:c.3050C>T | ENSP00000506226.1:p.Ser1017Leu | |
| ENST00000679714.1:c.3059C>T | ENSP00000506627.1:p.Ser1020Leu | |
| ENST00000679757.1:c.2714C>T | ENSP00000505158.1:p.Ser905Leu | |
| ENST00000679858.1:c.*2208C>T | ENSP00000505655.1:n.*2208C>T | |
| ENST00000680211.1:c.-335C>T | ENSP00000506102.1:n.-335C>T | |
| ENST00000680349.1:n.1048C>T | ||
| ENST00000680403.1:c.3065C>T | ENSP00000505677.1:p.Ser1022Leu | |
| ENST00000680564.1:c.2971+440C>T | ENSP00000505582.1:n.2971+440C>T | |
| ENST00000680590.1:c.*1460C>T | ENSP00000505350.1:n.*1460C>T | |
| ENST00000680773.1:n.742C>T | ||
| ENST00000680806.1:c.*1801-257C>T | ENSP00000506418.1:n.*1801-257C>T | |
| ENST00000680997.1:n.412C>T | ||
| ENST00000681088.1:c.727C>T | ||
| ENST00000681608.1:n.13C>T | ||
| ENST00000681625.1:c.*397C>T | ENSP00000505555.1:n.*397C>T | |
| ENST00000270301.11:c.3065C>T | ENSP00000270301.6:p.Ser1022Leu | |
| ENST00000401500.6:c.3065C>T | ENSP00000384792.1:p.Ser1022Leu | |
| ENST00000587391.5:c.*2101C>T | ENSP00000465525.1:n.*2101C>T | |
| NM_001083961.1:c.3065C>T | NP_001077430.1:p.Ser1022Leu | |
| NM_173636.4:c.3065C>T | NP_775907.4:p.Ser1022Leu | |
| XM_005258809.2:c.2972-257C>T | XP_005258866.1:n.2972-257C>T | |
| XM_011526837.1:c.3050C>T | XP_011525139.1:p.Ser1017Leu | |
| XM_011526838.1:c.2971+440C>T | XP_011525140.1:n.2971+440C>T | |
| XM_011526839.1:c.2714C>T | XP_011525141.1:p.Ser905Leu | |
| XM_011526840.1:c.2057C>T | XP_011525142.1:p.Ser686Leu | |
| XM_011526841.1:c.1643C>T | XP_011525143.1:p.Ser548Leu | |
| XM_011526842.1:c.1496C>T | XP_011525144.1:p.Ser499Leu | |
| XM_011526843.1:c.812C>T | XP_011525145.1:p.Ser271Leu | |
| XM_011526844.1:c.812C>T | XP_011525146.1:p.Ser271Leu | |
| XM_011526840.2:c.2057C>T | XP_011525142.1:p.Ser686Leu | |
| XM_011526841.2:c.1643C>T | XP_011525143.1:p.Ser548Leu | |
| XM_011526844.2:c.812C>T | XP_011525146.1:p.Ser271Leu | |
| XM_017026665.1:c.3065C>T | XP_016882154.1:p.Ser1022Leu | |
| NM_001083961.2:c.3065C>T MANE Select | NP_001077430.1:p.Ser1022Leu | |
| NM_173636.5:c.3065C>T | NP_775907.4:p.Ser1022Leu |