Linked Data
ClinVar Variation Id:
1245661
ClinVar RCV Id:
RCV001651650
dbSNP Id:
rs8069521
ExAC:
17:76421709 C / A
gnomAD v2:
17-76421709-C-A
gnomAD v3:
17-78425628-C-A
gnomAD v4:
17-78425628-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78425628C>A , CM000679.2:g.78425628C>A | GRCh38 |
| NC_000017.10:g.76421709C>A , CM000679.1:g.76421709C>A | GRCh37 |
| NC_000017.9:g.73933304C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.12916-57G>T MANE Select | ENSP00000374490.6:n.12916-57G>T | |
| ENST00000389840.6:c.12916-57G>T | ENSP00000374490.6:n.12916-57G>T | |
| ENST00000585328.5:c.12901-57G>T | ENSP00000465516.1:n.12901-57G>T | |
| ENST00000586052.5:n.6077-57G>T | ||
| ENST00000590227.5:n.2590-57G>T | ||
| ENST00000591369.5:c.4518-37G>T | ||
| ENST00000591647.1:n.265-57G>T | ||
| NM_173628.3:c.12916-57G>T | NP_775899.3:n.12916-57G>T | |
| XM_011525416.1:c.12928-57G>T | XP_011523718.1:n.12928-57G>T | |
| XM_011525418.1:c.6295-57G>T | XP_011523720.1:n.6295-57G>T | |
| XM_011525416.2:c.12928-57G>T | XP_011523718.1:n.12928-57G>T | |
| XM_017025261.2:c.6262-57G>T | XP_016880750.1:n.6262-57G>T | |
| XM_024451013.1:c.12784-57G>T | XP_024306781.1:n.12784-57G>T | |
| NM_173628.4:c.12916-57G>T MANE Select | NP_775899.3:n.12916-57G>T |