Linked Data
ClinVar Variation Id:
3047362
ClinVar RCV Id:
RCV004552777
dbSNP Id:
rs377332105
ExAC:
19:36592965 C / T
gnomAD v2:
19-36592965-C-T
gnomAD v3:
19-36102063-C-T
gnomAD v4:
19-36102063-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102063C>T , CM000681.2:g.36102063C>T | GRCh38 |
| NC_000019.9:g.36592965C>T , CM000681.1:g.36592965C>T | GRCh37 |
| NC_000019.8:g.41284805C>T | NCBI36 |
| NG_028101.1:g.52183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3132C>T | ENSP00000270301.6:p.Ser1044= | |
| ENST00000401500.7:c.3132C>T MANE Select | ENSP00000384792.1:p.Ser1044= | |
| ENST00000587391.6:c.*2407C>T | ENSP00000465525.1:n.*2407C>T | |
| ENST00000679357.1:c.922C>T | ||
| ENST00000679422.1:c.811C>T | ||
| ENST00000679682.1:c.3117C>T | ENSP00000506226.1:p.Ser1039= | |
| ENST00000679714.1:c.3126C>T | ENSP00000506627.1:p.Ser1042= | |
| ENST00000679757.1:c.2781C>T | ENSP00000505158.1:p.Ser927= | |
| ENST00000679858.1:c.*2514C>T | ENSP00000505655.1:n.*2514C>T | |
| ENST00000680211.1:c.-268C>T | ENSP00000506102.1:n.-268C>T | |
| ENST00000680349.1:n.1115C>T | ||
| ENST00000680403.1:c.3132C>T | ENSP00000505677.1:p.Ser1044= | |
| ENST00000680564.1:c.2972-674C>T | ENSP00000505582.1:n.2972-674C>T | |
| ENST00000680590.1:c.*1527C>T | ENSP00000505350.1:n.*1527C>T | |
| ENST00000680739.1:c.50C>T | ||
| ENST00000680773.1:n.1048C>T | ||
| ENST00000680806.1:c.*1850C>T | ENSP00000506418.1:n.*1850C>T | |
| ENST00000680997.1:n.479C>T | ||
| ENST00000681088.1:c.794C>T | ||
| ENST00000681608.1:n.80C>T | ||
| ENST00000681625.1:c.*464C>T | ENSP00000505555.1:n.*464C>T | |
| ENST00000270301.11:c.3132C>T | ENSP00000270301.6:p.Ser1044= | |
| ENST00000401500.6:c.3132C>T | ENSP00000384792.1:p.Ser1044= | |
| ENST00000587391.5:c.*2407C>T | ENSP00000465525.1:n.*2407C>T | |
| NM_001083961.1:c.3132C>T | NP_001077430.1:p.Ser1044= | |
| NM_173636.4:c.3132C>T | NP_775907.4:p.Ser1044= | |
| XM_005258809.2:c.3021C>T | XP_005258866.1:p.Ser1007= | |
| XM_011526837.1:c.3117C>T | XP_011525139.1:p.Ser1039= | |
| XM_011526838.1:c.2972-674C>T | XP_011525140.1:n.2972-674C>T | |
| XM_011526839.1:c.2781C>T | XP_011525141.1:p.Ser927= | |
| XM_011526840.1:c.2124C>T | XP_011525142.1:p.Ser708= | |
| XM_011526841.1:c.1710C>T | XP_011525143.1:p.Ser570= | |
| XM_011526842.1:c.1563C>T | XP_011525144.1:p.Ser521= | |
| XM_011526843.1:c.879C>T | XP_011525145.1:p.Ser293= | |
| XM_011526844.1:c.879C>T | XP_011525146.1:p.Ser293= | |
| XM_011526840.2:c.2124C>T | XP_011525142.1:p.Ser708= | |
| XM_011526841.2:c.1710C>T | XP_011525143.1:p.Ser570= | |
| XM_011526844.2:c.879C>T | XP_011525146.1:p.Ser293= | |
| XM_017026665.1:c.3132C>T | XP_016882154.1:p.Ser1044= | |
| NM_001083961.2:c.3132C>T MANE Select | NP_001077430.1:p.Ser1044= | |
| NM_173636.5:c.3132C>T | NP_775907.4:p.Ser1044= |