Linked Data
ClinVar Variation Id:
1258093
ClinVar RCV Id:
RCV001669039
dbSNP Id:
rs11569536
ExAC:
19:6686089 G / A
gnomAD v2:
19-6686089-G-A
gnomAD v3:
19-6686078-G-A
gnomAD v4:
19-6686078-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686078G>A , CM000681.2:g.6686078G>A | GRCh38 |
| NC_000019.9:g.6686089G>A , CM000681.1:g.6686089G>A | GRCh37 |
| NC_000019.8:g.6637089G>A | NCBI36 |
| NG_009557.1:g.39574C>T , LRG_27:g.39574C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.2158+46C>T | ||
| ENST00000695653.1:c.1719+46C>T | ENSP00000512084.1:n.1719+46C>T | |
| ENST00000695654.1:c.2835+46C>T | ENSP00000512085.1:n.2835+46C>T | |
| ENST00000245907.11:c.3810+46C>T MANE Select | ENSP00000245907.4:n.3810+46C>T | |
| ENST00000245907.10:c.3810+46C>T | ENSP00000245907.4:n.3810+46C>T | |
| ENST00000596238.1:n.253+46C>T | ||
| ENST00000601008.1:c.241+668C>T | ENSP00000471384.1:n.241+668C>T | |
| NM_000064.3:c.3810+46C>T | NP_000055.2:n.3810+46C>T | |
| NM_000064.4:c.3810+46C>T MANE Select | NP_000055.2:n.3810+46C>T |