Linked Data
ClinVar Variation Id:
776960
ClinVar RCV Id:
RCV000957356
dbSNP Id:
rs778657195
ExAC:
16:1412199 C / G
gnomAD v2:
16-1412199-C-G
gnomAD v3:
16-1362198-C-G
gnomAD v4:
16-1362198-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362198C>G , CM000678.2:g.1362198C>G | GRCh38 |
| NC_000016.9:g.1412199C>G , CM000678.1:g.1412199C>G | GRCh37 |
| NC_000016.8:g.1352200C>G | NCBI36 |
| NG_016985.1:g.15300C>G | |
| NG_033129.1:g.57507G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.511-8C>G | ||
| ENST00000529110.2:c.496-8C>G | ENSP00000435349.2:n.496-8C>G | |
| ENST00000529957.6:n.470-8C>G | ||
| ENST00000683366.1:c.*144-8C>G | ENSP00000507283.1:n.*144-8C>G | |
| ENST00000683887.1:c.460-8C>G | ENSP00000506886.1:n.460-8C>G | |
| ENST00000684100.1:n.406-8C>G | ||
| ENST00000684126.1:n.470-8C>G | ||
| ENST00000684688.1:n.1037-8C>G | ||
| ENST00000204679.9:c.412-8C>G MANE Select | ENSP00000204679.4:n.412-8C>G | |
| ENST00000204679.8:c.412-8C>G | ENSP00000204679.4:n.412-8C>G | |
| ENST00000527076.1:n.1428-8C>G | ||
| ENST00000527168.5:n.448-8C>G | ||
| ENST00000529110.1:c.479-8C>G | ||
| ENST00000529957.5:n.511-8C>G | ||
| NM_032520.4:c.412-8C>G | NP_115909.1:n.412-8C>G | |
| XM_017023782.1:c.460-8C>G | XP_016879271.1:n.460-8C>G | |
| XM_017023783.1:c.52-8C>G | XP_016879272.1:n.52-8C>G | |
| NM_032520.5:c.412-8C>G MANE Select | NP_115909.1:n.412-8C>G |