Linked Data
ClinVar Variation Id:
137907
dbSNP Id:
rs143309981
ExAC:
19:36575654 C / T
gnomAD v2:
19-36575654-C-T
gnomAD v3:
19-36084752-C-T
gnomAD v4:
19-36084752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36084752C>T , CM000681.2:g.36084752C>T | GRCh38 |
| NC_000019.9:g.36575654C>T , CM000681.1:g.36575654C>T | GRCh37 |
| NC_000019.8:g.41267494C>T | NCBI36 |
| NG_028101.1:g.34872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.1642+8C>T | ENSP00000270301.6:n.1642+8C>T | |
| ENST00000401500.7:c.1642+8C>T MANE Select | ENSP00000384792.1:n.1642+8C>T | |
| ENST00000587391.6:c.*332+8C>T | ENSP00000465525.1:n.*332+8C>T | |
| ENST00000679682.1:c.1627+8C>T | ENSP00000506226.1:n.1627+8C>T | |
| ENST00000679714.1:c.1636+8C>T | ENSP00000506627.1:n.1636+8C>T | |
| ENST00000679757.1:c.1291+8C>T | ENSP00000505158.1:n.1291+8C>T | |
| ENST00000679858.1:c.*439+8C>T | ENSP00000505655.1:n.*439+8C>T | |
| ENST00000680359.1:c.1642+8C>T | ENSP00000506079.1:n.1642+8C>T | |
| ENST00000680377.1:c.92+8C>T | ||
| ENST00000680403.1:c.1642+8C>T | ENSP00000505677.1:n.1642+8C>T | |
| ENST00000680489.1:n.1965+8C>T | ||
| ENST00000680564.1:c.1642+8C>T | ENSP00000505582.1:n.1642+8C>T | |
| ENST00000680590.1:c.*41+8C>T | ENSP00000505350.1:n.*41+8C>T | |
| ENST00000680806.1:c.*471+8C>T | ENSP00000506418.1:n.*471+8C>T | |
| ENST00000680858.1:c.92+8C>T | ||
| ENST00000681302.1:c.92+8C>T | ||
| ENST00000681625.1:c.1627+8C>T | ENSP00000505555.1:n.1627+8C>T | |
| ENST00000270301.11:c.1642+8C>T | ENSP00000270301.6:n.1642+8C>T | |
| ENST00000401500.6:c.1642+8C>T | ENSP00000384792.1:n.1642+8C>T | |
| ENST00000587391.5:c.*332+8C>T | ENSP00000465525.1:n.*332+8C>T | |
| NM_001083961.1:c.1642+8C>T | NP_001077430.1:n.1642+8C>T | |
| NM_173636.4:c.1642+8C>T | NP_775907.4:n.1642+8C>T | |
| XM_005258809.2:c.1642+8C>T | XP_005258866.1:n.1642+8C>T | |
| XM_011526837.1:c.1627+8C>T | XP_011525139.1:n.1627+8C>T | |
| XM_011526838.1:c.1642+8C>T | XP_011525140.1:n.1642+8C>T | |
| XM_011526839.1:c.1291+8C>T | XP_011525141.1:n.1291+8C>T | |
| XM_011526840.1:c.634+8C>T | XP_011525142.1:n.634+8C>T | |
| XM_011526841.1:c.220+8C>T | XP_011525143.1:n.220+8C>T | |
| XM_011526842.1:c.73+8C>T | XP_011525144.1:n.73+8C>T | |
| XM_011526840.2:c.634+8C>T | XP_011525142.1:n.634+8C>T | |
| XM_011526841.2:c.220+8C>T | XP_011525143.1:n.220+8C>T | |
| XM_017026665.1:c.1642+8C>T | XP_016882154.1:n.1642+8C>T | |
| XR_001753671.1:n.1733+8C>T | ||
| XR_001753672.1:n.1733+8C>T | ||
| NM_001083961.2:c.1642+8C>T MANE Select | NP_001077430.1:n.1642+8C>T | |
| NM_173636.5:c.1642+8C>T | NP_775907.4:n.1642+8C>T |