Linked Data
ClinVar Variation Id:
2991769
ClinVar RCV Id:
RCV003852832
dbSNP Id:
rs752510984
ExAC:
16:2376291 T / C
gnomAD v2:
16-2376291-T-C
gnomAD v3:
16-2326290-T-C
gnomAD v4:
16-2326290-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326290T>C , CM000678.2:g.2326290T>C | GRCh38 |
| NC_000016.9:g.2376291T>C , CM000678.1:g.2376291T>C | GRCh37 |
| NC_000016.8:g.2316292T>C | NCBI36 |
| NG_011790.1:g.19457A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.55-16A>G MANE Select | ENSP00000301732.5:n.55-16A>G | |
| ENST00000301732.9:c.55-16A>G | ENSP00000301732.5:n.55-16A>G | |
| ENST00000382381.7:c.55-16A>G | ENSP00000371818.3:n.55-16A>G | |
| ENST00000563623.5:n.618-16A>G | ||
| ENST00000567910.1:c.55-16A>G | ENSP00000454397.1:n.55-16A>G | |
| NM_001089.2:c.55-16A>G | NP_001080.2:n.55-16A>G | |
| NM_001089.3:c.55-16A>G MANE Select | NP_001080.2:n.55-16A>G |