Linked Data
ClinVar Variation Id:
919828
ClinVar RCV Id:
RCV001178238
dbSNP Id:
rs2095888282
gnomAD v4:
11-47341251-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47341251G>C , CM000673.2:g.47341251G>C | GRCh38 |
| NC_000011.9:g.47362802G>C , CM000673.1:g.47362802G>C | GRCh37 |
| NC_000011.8:g.47319378G>C | NCBI36 |
| NG_007667.1:g.16452C>G , LRG_386:g.16452C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1791-7C>G MANE Select | ENSP00000442795.1:n.1791-7C>G | |
| ENST00000256993.8:c.1791-7C>G | ENSP00000256993.5:n.1791-7C>G | |
| ENST00000399249.6:c.1791-7C>G | ENSP00000382193.2:n.1791-7C>G | |
| ENST00000544791.1:c.1791-7C>G | ENSP00000444259.1:n.1791-7C>G | |
| ENST00000545968.5:c.1791-7C>G | ENSP00000442795.1:n.1791-7C>G | |
| NM_000256.3:c.1791-7C>G , LRG_386t1:c.1791-7C>G MANE Select | NP_000247.2:n.1791-7C>G | |
| XM_011520117.1:c.1773-7C>G | XP_011518419.1:n.1773-7C>G | |
| XM_011520118.1:c.1791-7C>G | XP_011518420.1:n.1791-7C>G |