Linked Data
ClinVar Variation Id:
1942434
ClinVar RCV Id:
RCV002653802
dbSNP Id:
rs747713846
ExAC:
16:1412201 C / A
gnomAD v2:
16-1412201-C-A
gnomAD v4:
16-1362200-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362200C>A , CM000678.2:g.1362200C>A | GRCh38 |
| NC_000016.9:g.1412201C>A , CM000678.1:g.1412201C>A | GRCh37 |
| NC_000016.8:g.1352202C>A | NCBI36 |
| NG_016985.1:g.15302C>A | |
| NG_033129.1:g.57505G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.511-6C>A | ||
| ENST00000529110.2:c.496-6C>A | ENSP00000435349.2:n.496-6C>A | |
| ENST00000529957.6:n.470-6C>A | ||
| ENST00000683366.1:c.*144-6C>A | ENSP00000507283.1:n.*144-6C>A | |
| ENST00000683887.1:c.460-6C>A | ENSP00000506886.1:n.460-6C>A | |
| ENST00000684100.1:n.406-6C>A | ||
| ENST00000684126.1:n.470-6C>A | ||
| ENST00000684688.1:n.1037-6C>A | ||
| ENST00000204679.9:c.412-6C>A MANE Select | ENSP00000204679.4:n.412-6C>A | |
| ENST00000204679.8:c.412-6C>A | ENSP00000204679.4:n.412-6C>A | |
| ENST00000527076.1:n.1428-6C>A | ||
| ENST00000527168.5:n.448-6C>A | ||
| ENST00000529110.1:c.479-6C>A | ||
| ENST00000529957.5:n.511-6C>A | ||
| NM_032520.4:c.412-6C>A | NP_115909.1:n.412-6C>A | |
| XM_017023782.1:c.460-6C>A | XP_016879271.1:n.460-6C>A | |
| XM_017023783.1:c.52-6C>A | XP_016879272.1:n.52-6C>A | |
| NM_032520.5:c.412-6C>A MANE Select | NP_115909.1:n.412-6C>A |