Linked Data
ClinVar Variation Id:
1560819
ClinVar RCV Id:
RCV002209262
dbSNP Id:
rs1012161747
gnomAD v4:
16-1362915-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362915C>A , CM000678.2:g.1362915C>A | GRCh38 |
| NC_000016.9:g.1412916C>A , CM000678.1:g.1412916C>A | GRCh37 |
| NC_000016.8:g.1352917C>A | NCBI36 |
| NG_016985.1:g.16017C>A | |
| NG_033129.1:g.56790G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.922+9C>A | ||
| ENST00000529110.2:c.907+9C>A | ENSP00000435349.2:n.907+9C>A | |
| ENST00000529957.6:n.881+9C>A | ||
| ENST00000683366.1:c.*555+9C>A | ENSP00000507283.1:n.*555+9C>A | |
| ENST00000683887.1:c.871+9C>A | ENSP00000506886.1:n.871+9C>A | |
| ENST00000684100.1:n.817+9C>A | ||
| ENST00000684126.1:n.957+9C>A | ||
| ENST00000684688.1:n.1448+9C>A | ||
| ENST00000204679.9:c.823+9C>A MANE Select | ENSP00000204679.4:n.823+9C>A | |
| ENST00000204679.8:c.823+9C>A | ENSP00000204679.4:n.823+9C>A | |
| ENST00000527076.1:n.2046+9C>A | ||
| ENST00000527168.5:n.990+9C>A | ||
| NM_032520.4:c.823+9C>A | NP_115909.1:n.823+9C>A | |
| XM_017023782.1:c.871+9C>A | XP_016879271.1:n.871+9C>A | |
| XM_017023783.1:c.463+9C>A | XP_016879272.1:n.463+9C>A | |
| NM_032520.5:c.823+9C>A MANE Select | NP_115909.1:n.823+9C>A |