Linked Data
ClinVar Variation Id:
389316
dbSNP Id:
rs780822241
ExAC:
19:7616233 C / T
gnomAD v2:
19-7616233-C-T
gnomAD v3:
19-7551347-C-T
gnomAD v4:
19-7551347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7551347C>T , CM000681.2:g.7551347C>T | GRCh38 |
| NC_000019.9:g.7616233C>T , CM000681.1:g.7616233C>T | GRCh37 |
| NC_000019.8:g.7522233C>T | NCBI36 |
| NG_013374.1:g.22196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.2185-15C>T MANE Select | ENSP00000473211.1:n.2185-15C>T | |
| ENST00000221249.10:c.2068-15C>T | ENSP00000221249.5:n.2068-15C>T | |
| ENST00000414982.7:c.2212-15C>T | ENSP00000407509.2:n.2212-15C>T | |
| ENST00000450331.7:c.2068-15C>T | ENSP00000394348.2:n.2068-15C>T | |
| ENST00000545201.6:c.1990-15C>T | ENSP00000443323.1:n.1990-15C>T | |
| ENST00000599951.1:n.283-15C>T | ||
| ENST00000600737.5:c.2185-15C>T | ENSP00000473211.1:n.2185-15C>T | |
| NM_001166111.1:c.2212-15C>T | NP_001159583.1:n.2212-15C>T | |
| NM_001166112.1:c.1990-15C>T | NP_001159584.1:n.1990-15C>T | |
| NM_001166113.1:c.2068-15C>T | NP_001159585.1:n.2068-15C>T | |
| NM_001166114.1:c.2185-15C>T | NP_001159586.1:n.2185-15C>T | |
| NM_006702.4:c.2068-15C>T | NP_006693.3:n.2068-15C>T | |
| NM_001166111.2:c.2212-15C>T | NP_001159583.1:n.2212-15C>T | |
| NM_001166114.2:c.2185-15C>T MANE Select | NP_001159586.1:n.2185-15C>T | |
| NM_006702.5:c.2068-15C>T | NP_006693.3:n.2068-15C>T | |
| NM_001166112.2:c.1990-15C>T | NP_001159584.1:n.1990-15C>T |