Linked Data
ClinVar Variation Id:
2194109
ClinVar RCV Id:
RCV002624234
dbSNP Id:
rs1188580010
gnomAD v2:
11-47362805-A-G
gnomAD v3:
11-47341254-A-G
gnomAD v4:
11-47341254-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47341254A>G , CM000673.2:g.47341254A>G | GRCh38 |
| NC_000011.9:g.47362805A>G , CM000673.1:g.47362805A>G | GRCh37 |
| NC_000011.8:g.47319381A>G | NCBI36 |
| NG_007667.1:g.16449T>C , LRG_386:g.16449T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1791-10T>C MANE Select | ENSP00000442795.1:n.1791-10T>C | |
| ENST00000256993.8:c.1791-10T>C | ENSP00000256993.5:n.1791-10T>C | |
| ENST00000399249.6:c.1791-10T>C | ENSP00000382193.2:n.1791-10T>C | |
| ENST00000544791.1:c.1791-10T>C | ENSP00000444259.1:n.1791-10T>C | |
| ENST00000545968.5:c.1791-10T>C | ENSP00000442795.1:n.1791-10T>C | |
| NM_000256.3:c.1791-10T>C , LRG_386t1:c.1791-10T>C MANE Select | NP_000247.2:n.1791-10T>C | |
| XM_011520117.1:c.1773-10T>C | XP_011518419.1:n.1773-10T>C | |
| XM_011520118.1:c.1791-10T>C | XP_011518420.1:n.1791-10T>C |