Linked Data
ClinVar Variation Id:
224743
ClinVar RCV Id:
RCV000210295
dbSNP Id:
rs869312178
PubMed:
PMID:26872967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90628554C>G , CM000667.2:g.90628554C>G | GRCh38 |
| NC_000005.9:g.89924371C>G , CM000667.1:g.89924371C>G | GRCh37 |
| NC_000005.8:g.89960127C>G | NCBI36 |
| NG_007083.1:g.74755C>G | |
| NG_007083.2:g.104211C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.1239-8C>G MANE Select | ENSP00000384582.2:n.1239-8C>G | |
| ENST00000504142.2:n.5-8C>G | ||
| ENST00000640083.1:n.944-8C>G | ||
| ENST00000640109.1:n.1335-8C>G | ||
| ENST00000405460.6:c.1239-8C>G | ENSP00000384582.2:n.1239-8C>G | |
| NM_032119.3:c.1239-8C>G | NP_115495.3:n.1239-8C>G | |
| NR_003149.1:n.1335-8C>G | ||
| XM_011543675.1:c.1239-8C>G | XP_011541977.1:n.1239-8C>G | |
| XM_011543676.1:c.1239-8C>G | XP_011541978.1:n.1239-8C>G | |
| XM_011543678.1:c.1239-8C>G | XP_011541980.1:n.1239-8C>G | |
| XM_011543679.1:c.1239-8C>G | XP_011541981.1:n.1239-8C>G | |
| NM_032119.4:c.1239-8C>G MANE Select | NP_115495.3:n.1239-8C>G | |
| XM_017009963.2:c.1239-8C>G | XP_016865452.1:n.1239-8C>G | |
| XM_017009964.2:c.1239-8C>G | XP_016865453.1:n.1239-8C>G | |
| XM_017009965.1:c.1236-8C>G | XP_016865454.1:n.1236-8C>G | |
| XM_017009966.2:c.1239-8C>G | XP_016865455.1:n.1239-8C>G | |
| XM_017009967.1:c.1143-8C>G | XP_016865456.1:n.1143-8C>G | |
| XM_017009968.2:c.1239-8C>G | XP_016865457.1:n.1239-8C>G | |
| XM_017009969.2:c.1239-8C>G | XP_016865458.1:n.1239-8C>G | |
| XM_017009970.2:c.1239-8C>G | XP_016865459.1:n.1239-8C>G | |
| XM_017009971.2:c.1239-8C>G | XP_016865460.1:n.1239-8C>G | |
| XM_017009974.2:c.1239-8C>G | XP_016865463.1:n.1239-8C>G | |
| NR_003149.2:n.1338-8C>G |