Linked Data
ClinVar Variation Id:
1606550
ClinVar RCV Id:
RCV002139394
dbSNP Id:
rs201726041
ExAC:
19:6697821 C / A
gnomAD v2:
19-6697821-C-A
gnomAD v3:
19-6697810-C-A
gnomAD v4:
19-6697810-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697810C>A , CM000681.2:g.6697810C>A | GRCh38 |
| NC_000019.9:g.6697821C>A , CM000681.1:g.6697821C>A | GRCh37 |
| NC_000019.8:g.6648821C>A | NCBI36 |
| NG_009557.1:g.27842G>T , LRG_27:g.27842G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.789-16G>T | ||
| ENST00000695652.1:c.2318-16G>T | ENSP00000512083.1:n.2318-16G>T | |
| ENST00000695653.1:c.350-16G>T | ENSP00000512084.1:n.350-16G>T | |
| ENST00000695654.1:c.1565-16G>T | ENSP00000512085.1:n.1565-16G>T | |
| ENST00000695655.1:c.1382-16G>T | ENSP00000512086.1:n.1382-16G>T | |
| ENST00000695692.1:n.1805-16G>T | ||
| ENST00000245907.11:c.2441-16G>T MANE Select | ENSP00000245907.4:n.2441-16G>T | |
| ENST00000245907.10:c.2441-16G>T | ENSP00000245907.4:n.2441-16G>T | |
| ENST00000602053.1:n.489-16G>T | ||
| NM_000064.3:c.2441-16G>T | NP_000055.2:n.2441-16G>T | |
| NM_000064.4:c.2441-16G>T MANE Select | NP_000055.2:n.2441-16G>T |