Linked Data
ClinVar Variation Id:
2747762
ClinVar RCV Id:
RCV003570616
dbSNP Id:
rs1312392546
gnomAD v3:
16-2317628-C-G
gnomAD v4:
16-2317628-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317628C>G , CM000678.2:g.2317628C>G | GRCh38 |
| NC_000016.9:g.2367629C>G , CM000678.1:g.2367629C>G | GRCh37 |
| NC_000016.8:g.2307630C>G | NCBI36 |
| NG_011790.1:g.28119G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.990+20G>C MANE Select | ENSP00000301732.5:n.990+20G>C | |
| ENST00000301732.9:c.990+20G>C | ENSP00000301732.5:n.990+20G>C | |
| ENST00000382381.7:c.990+20G>C | ENSP00000371818.3:n.990+20G>C | |
| ENST00000563623.5:n.1553+20G>C | ||
| NM_001089.2:c.990+20G>C | NP_001080.2:n.990+20G>C | |
| NM_001089.3:c.990+20G>C MANE Select | NP_001080.2:n.990+20G>C |