Linked Data
ClinVar Variation Id:
333901
dbSNP Id:
rs188586992
ExAC:
2:209189018 T / A
gnomAD v2:
2-209189018-T-A
gnomAD v3:
2-208324294-T-A
gnomAD v4:
2-208324294-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208324294T>A , CM000664.2:g.208324294T>A | GRCh38 |
| NC_000002.11:g.209189018T>A , CM000664.1:g.209189018T>A | GRCh37 |
| NC_000002.10:g.208897263T>A | NCBI36 |
| NG_021188.1:g.63028T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.2331+12T>A MANE Select | ENSP00000264380.4:n.2331+12T>A | |
| ENST00000264380.8:c.2331+12T>A | ENSP00000264380.4:n.2331+12T>A | |
| ENST00000443896.5:c.*1682+12T>A | ENSP00000407692.1:n.*1682+12T>A | |
| ENST00000452564.1:c.2163+12T>A | ENSP00000405736.1:n.2163+12T>A | |
| NM_015040.3:c.2331+12T>A | NP_055855.2:n.2331+12T>A | |
| XM_011510778.1:c.2367+12T>A | XP_011509080.1:n.2367+12T>A | |
| XM_011510779.1:c.2367+12T>A | XP_011509081.1:n.2367+12T>A | |
| XM_011510780.1:c.2364+12T>A | XP_011509082.1:n.2364+12T>A | |
| XM_011510781.1:c.2349+12T>A | XP_011509083.1:n.2349+12T>A | |
| XM_011510782.1:c.2367+12T>A | XP_011509084.1:n.2367+12T>A | |
| XM_011510783.1:c.2199+12T>A | XP_011509085.1:n.2199+12T>A | |
| XM_011510784.1:c.2196+12T>A | XP_011509086.1:n.2196+12T>A | |
| XM_011510785.1:c.2181+12T>A | XP_011509087.1:n.2181+12T>A | |
| XM_011510786.1:c.2076+12T>A | XP_011509088.1:n.2076+12T>A | |
| XM_011510787.1:c.2073+12T>A | XP_011509089.1:n.2073+12T>A | |
| XM_011510788.1:c.2040+12T>A | XP_011509090.1:n.2040+12T>A | |
| XM_011510789.1:c.1890+12T>A | XP_011509091.1:n.1890+12T>A | |
| XM_011510790.1:c.1374+12T>A | XP_011509092.1:n.1374+12T>A | |
| XM_011510791.1:c.1374+12T>A | XP_011509093.1:n.1374+12T>A | |
| XM_011510792.1:c.2367+12T>A | XP_011509094.1:n.2367+12T>A | |
| XR_922888.1:n.2504+12T>A | ||
| XM_011510778.3:c.2367+12T>A | XP_011509080.1:n.2367+12T>A | |
| XM_011510779.2:c.2367+12T>A | XP_011509081.1:n.2367+12T>A | |
| XM_011510780.2:c.2364+12T>A | XP_011509082.1:n.2364+12T>A | |
| XM_011510781.3:c.2349+12T>A | XP_011509083.1:n.2349+12T>A | |
| XM_011510782.3:c.2367+12T>A | XP_011509084.1:n.2367+12T>A | |
| XM_011510783.3:c.2199+12T>A | XP_011509085.1:n.2199+12T>A | |
| XM_011510784.2:c.2196+12T>A | XP_011509086.1:n.2196+12T>A | |
| XM_011510785.3:c.2181+12T>A | XP_011509087.1:n.2181+12T>A | |
| XM_011510786.3:c.2076+12T>A | XP_011509088.1:n.2076+12T>A | |
| XM_011510789.2:c.1890+12T>A | XP_011509091.1:n.1890+12T>A | |
| XM_011510792.3:c.2367+12T>A | XP_011509094.1:n.2367+12T>A | |
| XM_017003568.1:c.2313+12T>A | XP_016859057.1:n.2313+12T>A | |
| XM_017003569.1:c.2145+12T>A | XP_016859058.1:n.2145+12T>A | |
| XM_017003570.1:c.1872+12T>A | XP_016859059.1:n.1872+12T>A | |
| XM_017003571.1:c.1722+12T>A | XP_016859060.1:n.1722+12T>A | |
| XM_017003572.1:c.1374+12T>A | XP_016859061.1:n.1374+12T>A | |
| XM_017003573.1:c.1374+12T>A | XP_016859062.1:n.1374+12T>A | |
| XM_017003574.1:c.1374+12T>A | XP_016859063.1:n.1374+12T>A | |
| NM_015040.4:c.2331+12T>A MANE Select | NP_055855.2:n.2331+12T>A |