Linked Data
ClinVar Variation Id:
1091590
ClinVar RCV Id:
RCV001411129
dbSNP Id:
rs1439408621
gnomAD v3:
16-1362201-C-G
gnomAD v4:
16-1362201-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362201C>G , CM000678.2:g.1362201C>G | GRCh38 |
| NC_000016.9:g.1412202C>G , CM000678.1:g.1412202C>G | GRCh37 |
| NC_000016.8:g.1352203C>G | NCBI36 |
| NG_016985.1:g.15303C>G | |
| NG_033129.1:g.57504G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.511-5C>G | ||
| ENST00000529110.2:c.496-5C>G | ENSP00000435349.2:n.496-5C>G | |
| ENST00000529957.6:n.470-5C>G | ||
| ENST00000683366.1:c.*144-5C>G | ENSP00000507283.1:n.*144-5C>G | |
| ENST00000683887.1:c.460-5C>G | ENSP00000506886.1:n.460-5C>G | |
| ENST00000684100.1:n.406-5C>G | ||
| ENST00000684126.1:n.470-5C>G | ||
| ENST00000684688.1:n.1037-5C>G | ||
| ENST00000204679.9:c.412-5C>G MANE Select | ENSP00000204679.4:n.412-5C>G | |
| ENST00000204679.8:c.412-5C>G | ENSP00000204679.4:n.412-5C>G | |
| ENST00000527076.1:n.1428-5C>G | ||
| ENST00000527168.5:n.448-5C>G | ||
| ENST00000529110.1:c.479-5C>G | ||
| ENST00000529957.5:n.511-5C>G | ||
| NM_032520.4:c.412-5C>G | NP_115909.1:n.412-5C>G | |
| XM_017023782.1:c.460-5C>G | XP_016879271.1:n.460-5C>G | |
| XM_017023783.1:c.52-5C>G | XP_016879272.1:n.52-5C>G | |
| NM_032520.5:c.412-5C>G MANE Select | NP_115909.1:n.412-5C>G |