Linked Data
ClinVar Variation Id:
619683
ClinVar RCV Id:
RCV000759061
dbSNP Id:
rs1025977498
gnomAD v2:
16-223045-C-G
gnomAD v3:
16-173046-C-G
gnomAD v4:
16-173046-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173046C>G , CM000678.2:g.173046C>G | GRCh38 |
| NC_000016.9:g.223045C>G , CM000678.1:g.223045C>G | GRCh37 |
| NC_000016.8:g.163045C>G | NCBI36 |
| NG_000006.1:g.33909C>G | |
| NG_059186.1:g.1396C>G | |
| NG_059271.1:g.5200C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.95+39C>G MANE Select | ENSP00000251595.6:n.95+39C>G | |
| ENST00000251595.10:c.95+39C>G | ENSP00000251595.6:n.95+39C>G | |
| ENST00000397806.1:c.-1-79C>G | ENSP00000380908.1:n.-1-79C>G | |
| ENST00000482565.1:n.153C>G | ||
| ENST00000484216.1:n.64+39C>G | ||
| NM_000517.4:c.95+39C>G | NP_000508.1:n.95+39C>G | |
| NM_000517.6:c.95+39C>G MANE Select | NP_000508.1:n.95+39C>G |