Linked Data
ClinVar Variation Id:
1194735
ClinVar RCV Id:
RCV001557584
dbSNP Id:
rs368993695
ExAC:
19:36592884 C / T
gnomAD v2:
19-36592884-C-T
gnomAD v3:
19-36101982-C-T
gnomAD v4:
19-36101982-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36101982C>T , CM000681.2:g.36101982C>T | GRCh38 |
| NC_000019.9:g.36592884C>T , CM000681.1:g.36592884C>T | GRCh37 |
| NC_000019.8:g.41284724C>T | NCBI36 |
| NG_028101.1:g.52102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3083-32C>T | ENSP00000270301.6:n.3083-32C>T | |
| ENST00000401500.7:c.3083-32C>T MANE Select | ENSP00000384792.1:n.3083-32C>T | |
| ENST00000587391.6:c.*2326C>T | ENSP00000465525.1:n.*2326C>T | |
| ENST00000679357.1:c.873-32C>T | ||
| ENST00000679422.1:c.762-32C>T | ||
| ENST00000679682.1:c.3068-32C>T | ENSP00000506226.1:n.3068-32C>T | |
| ENST00000679714.1:c.3077-32C>T | ENSP00000506627.1:n.3077-32C>T | |
| ENST00000679757.1:c.2732-32C>T | ENSP00000505158.1:n.2732-32C>T | |
| ENST00000679858.1:c.*2433C>T | ENSP00000505655.1:n.*2433C>T | |
| ENST00000680211.1:c.-317-32C>T | ENSP00000506102.1:n.-317-32C>T | |
| ENST00000680349.1:n.1066-32C>T | ||
| ENST00000680403.1:c.3083-32C>T | ENSP00000505677.1:n.3083-32C>T | |
| ENST00000680564.1:c.2971+665C>T | ENSP00000505582.1:n.2971+665C>T | |
| ENST00000680590.1:c.*1478-32C>T | ENSP00000505350.1:n.*1478-32C>T | |
| ENST00000680773.1:n.967C>T | ||
| ENST00000680806.1:c.*1801-32C>T | ENSP00000506418.1:n.*1801-32C>T | |
| ENST00000680997.1:n.430-32C>T | ||
| ENST00000681088.1:c.745-32C>T | ||
| ENST00000681608.1:n.31-32C>T | ||
| ENST00000681625.1:c.*415-32C>T | ENSP00000505555.1:n.*415-32C>T | |
| ENST00000270301.11:c.3083-32C>T | ENSP00000270301.6:n.3083-32C>T | |
| ENST00000401500.6:c.3083-32C>T | ENSP00000384792.1:n.3083-32C>T | |
| ENST00000587391.5:c.*2326C>T | ENSP00000465525.1:n.*2326C>T | |
| NM_001083961.1:c.3083-32C>T | NP_001077430.1:n.3083-32C>T | |
| NM_173636.4:c.3083-32C>T | NP_775907.4:n.3083-32C>T | |
| XM_005258809.2:c.2972-32C>T | XP_005258866.1:n.2972-32C>T | |
| XM_011526837.1:c.3068-32C>T | XP_011525139.1:n.3068-32C>T | |
| XM_011526838.1:c.2971+665C>T | XP_011525140.1:n.2971+665C>T | |
| XM_011526839.1:c.2732-32C>T | XP_011525141.1:n.2732-32C>T | |
| XM_011526840.1:c.2075-32C>T | XP_011525142.1:n.2075-32C>T | |
| XM_011526841.1:c.1661-32C>T | XP_011525143.1:n.1661-32C>T | |
| XM_011526842.1:c.1514-32C>T | XP_011525144.1:n.1514-32C>T | |
| XM_011526843.1:c.830-32C>T | XP_011525145.1:n.830-32C>T | |
| XM_011526844.1:c.830-32C>T | XP_011525146.1:n.830-32C>T | |
| XM_011526840.2:c.2075-32C>T | XP_011525142.1:n.2075-32C>T | |
| XM_011526841.2:c.1661-32C>T | XP_011525143.1:n.1661-32C>T | |
| XM_011526844.2:c.830-32C>T | XP_011525146.1:n.830-32C>T | |
| XM_017026665.1:c.3083-32C>T | XP_016882154.1:n.3083-32C>T | |
| NM_001083961.2:c.3083-32C>T MANE Select | NP_001077430.1:n.3083-32C>T | |
| NM_173636.5:c.3083-32C>T | NP_775907.4:n.3083-32C>T |