Linked Data
ClinVar Variation Id:
369950
ClinVar RCV Id:
RCV000408871
dbSNP Id:
rs1057516193
gnomAD v2:
16-84050895-G-C
gnomAD v3:
16-84017290-G-C
gnomAD v4:
16-84017290-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84017290G>C , CM000678.2:g.84017290G>C | GRCh38 |
| NC_000016.9:g.84050895G>C , CM000678.1:g.84050895G>C | GRCh37 |
| NC_000016.8:g.82608396G>C | NCBI36 |
| NG_034136.1:g.29868C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299709.8:c.806-3C>G MANE Select | ENSP00000299709.3:n.806-3C>G | |
| ENST00000299709.7:c.806-3C>G | ENSP00000299709.3:n.806-3C>G | |
| NM_001080442.2:c.806-3C>G | NP_001073911.1:n.806-3C>G | |
| XM_011522872.1:c.806-3C>G | XP_011521174.1:n.806-3C>G | |
| XM_017022946.1:c.806-3C>G | XP_016878435.1:n.806-3C>G | |
| NM_001080442.3:c.806-3C>G MANE Select | NP_001073911.1:n.806-3C>G |