Linked Data
ClinVar Variation Id:
329886
dbSNP Id:
rs79635160
ExAC:
19:50338784 C / T
gnomAD v2:
19-50338784-C-T
gnomAD v3:
19-49835527-C-T
gnomAD v4:
19-49835527-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49835527C>T , CM000681.2:g.49835527C>T | GRCh38 |
| NC_000019.9:g.50338784C>T , CM000681.1:g.50338784C>T | GRCh37 |
| NC_000019.8:g.55030596C>T | NCBI36 |
| NG_017091.1:g.22249C>T , LRG_368:g.22249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.1675-7C>T | ENSP00000470692.3:n.1675-7C>T | |
| ENST00000312865.10:c.1675-7C>T MANE Select | ENSP00000326767.5:n.1675-7C>T | |
| ENST00000538643.5:c.1036-7C>T | ENSP00000437496.1:n.1036-7C>T | |
| ENST00000593767.1:c.121-7C>T | ||
| ENST00000594998.1:n.2295-7C>T | ||
| ENST00000595185.5:c.689-1364C>T | ENSP00000470027.1:n.689-1364C>T | |
| ENST00000612791.4:c.762-1312C>T | ENSP00000479851.1:n.762-1312C>T | |
| ENST00000612854.4:c.451-726C>T | ENSP00000482155.1:n.451-726C>T | |
| ENST00000617849.4:c.880-7C>T | ENSP00000484882.1:n.880-7C>T | |
| ENST00000618715.4:c.880-7C>T | ENSP00000480731.1:n.880-7C>T | |
| ENST00000620467.4:c.973-756C>T | ENSP00000482659.1:n.973-756C>T | |
| ENST00000622046.1:c.142-7C>T | ENSP00000483584.1:n.142-7C>T | |
| ENST00000622402.4:c.146-300C>T | ENSP00000478074.1:n.146-300C>T | |
| NM_030973.3:c.1675-7C>T , LRG_368t1:c.1675-7C>T | NP_112235.2:n.1675-7C>T | |
| XM_011527353.1:c.1675-7C>T | XP_011525655.1:n.1675-7C>T | |
| NM_001378355.1:c.1675-7C>T | NP_001365284.1:n.1675-7C>T | |
| NM_030973.4:c.1675-7C>T MANE Select | NP_112235.2:n.1675-7C>T |