Linked Data
ClinVar Variation Id:
333900
dbSNP Id:
rs16840942
ExAC:
2:209188851 A / T
gnomAD v2:
2-209188851-A-T
gnomAD v3:
2-208324127-A-T
gnomAD v4:
2-208324127-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208324127A>T , CM000664.2:g.208324127A>T | GRCh38 |
| NC_000002.11:g.209188851A>T , CM000664.1:g.209188851A>T | GRCh37 |
| NC_000002.10:g.208897096A>T | NCBI36 |
| NG_021188.1:g.62861A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.2191-15A>T MANE Select | ENSP00000264380.4:n.2191-15A>T | |
| ENST00000264380.8:c.2191-15A>T | ENSP00000264380.4:n.2191-15A>T | |
| ENST00000443896.5:c.*1542-15A>T | ENSP00000407692.1:n.*1542-15A>T | |
| ENST00000452564.1:c.2023-15A>T | ENSP00000405736.1:n.2023-15A>T | |
| NM_015040.3:c.2191-15A>T | NP_055855.2:n.2191-15A>T | |
| XM_011510778.1:c.2227-15A>T | XP_011509080.1:n.2227-15A>T | |
| XM_011510779.1:c.2227-15A>T | XP_011509081.1:n.2227-15A>T | |
| XM_011510780.1:c.2224-15A>T | XP_011509082.1:n.2224-15A>T | |
| XM_011510781.1:c.2209-15A>T | XP_011509083.1:n.2209-15A>T | |
| XM_011510782.1:c.2227-15A>T | XP_011509084.1:n.2227-15A>T | |
| XM_011510783.1:c.2059-15A>T | XP_011509085.1:n.2059-15A>T | |
| XM_011510784.1:c.2056-15A>T | XP_011509086.1:n.2056-15A>T | |
| XM_011510785.1:c.2041-15A>T | XP_011509087.1:n.2041-15A>T | |
| XM_011510786.1:c.1936-15A>T | XP_011509088.1:n.1936-15A>T | |
| XM_011510787.1:c.1933-15A>T | XP_011509089.1:n.1933-15A>T | |
| XM_011510788.1:c.1900-15A>T | XP_011509090.1:n.1900-15A>T | |
| XM_011510789.1:c.1750-15A>T | XP_011509091.1:n.1750-15A>T | |
| XM_011510790.1:c.1234-15A>T | XP_011509092.1:n.1234-15A>T | |
| XM_011510791.1:c.1234-15A>T | XP_011509093.1:n.1234-15A>T | |
| XM_011510792.1:c.2227-15A>T | XP_011509094.1:n.2227-15A>T | |
| XR_922888.1:n.2364-15A>T | ||
| XM_011510778.3:c.2227-15A>T | XP_011509080.1:n.2227-15A>T | |
| XM_011510779.2:c.2227-15A>T | XP_011509081.1:n.2227-15A>T | |
| XM_011510780.2:c.2224-15A>T | XP_011509082.1:n.2224-15A>T | |
| XM_011510781.3:c.2209-15A>T | XP_011509083.1:n.2209-15A>T | |
| XM_011510782.3:c.2227-15A>T | XP_011509084.1:n.2227-15A>T | |
| XM_011510783.3:c.2059-15A>T | XP_011509085.1:n.2059-15A>T | |
| XM_011510784.2:c.2056-15A>T | XP_011509086.1:n.2056-15A>T | |
| XM_011510785.3:c.2041-15A>T | XP_011509087.1:n.2041-15A>T | |
| XM_011510786.3:c.1936-15A>T | XP_011509088.1:n.1936-15A>T | |
| XM_011510789.2:c.1750-15A>T | XP_011509091.1:n.1750-15A>T | |
| XM_011510792.3:c.2227-15A>T | XP_011509094.1:n.2227-15A>T | |
| XM_017003568.1:c.2173-15A>T | XP_016859057.1:n.2173-15A>T | |
| XM_017003569.1:c.2005-15A>T | XP_016859058.1:n.2005-15A>T | |
| XM_017003570.1:c.1732-15A>T | XP_016859059.1:n.1732-15A>T | |
| XM_017003571.1:c.1582-15A>T | XP_016859060.1:n.1582-15A>T | |
| XM_017003572.1:c.1234-15A>T | XP_016859061.1:n.1234-15A>T | |
| XM_017003573.1:c.1234-15A>T | XP_016859062.1:n.1234-15A>T | |
| XM_017003574.1:c.1234-15A>T | XP_016859063.1:n.1234-15A>T | |
| NM_015040.4:c.2191-15A>T MANE Select | NP_055855.2:n.2191-15A>T |