Linked Data
ClinVar Variation Id:
984532
ClinVar RCV Id:
RCV001264614
dbSNP Id:
rs1875163630
ERepo:
CA16020875/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851761A>G , CM000674.2:g.102851761A>G | GRCh38 |
| NC_000012.11:g.103245539A>G , CM000674.1:g.103245539A>G | GRCh37 |
| NC_000012.10:g.101769669A>G | NCBI36 |
| NG_008690.1:g.70842T>C | |
| NG_008690.2:g.111650T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.843-5T>C MANE Select | ENSP00000448059.1:n.843-5T>C | |
| ENST00000307000.7:c.828-5T>C | ENSP00000303500.2:n.828-5T>C | |
| ENST00000549247.6:n.602-5T>C | ||
| ENST00000551114.2:n.500T>C | ||
| ENST00000553106.5:c.843-5T>C | ENSP00000448059.1:n.843-5T>C | |
| ENST00000635477.1:c.4-5T>C | ||
| NM_000277.1:c.843-5T>C | NP_000268.1:n.843-5T>C | |
| XM_011538422.1:c.843-5T>C | XP_011536724.1:n.843-5T>C | |
| NM_000277.2:c.843-5T>C | NP_000268.1:n.843-5T>C | |
| NM_001354304.1:c.843-5T>C | NP_001341233.1:n.843-5T>C | |
| NM_000277.3:c.843-5T>C MANE Select | NP_000268.1:n.843-5T>C | |
| NM_001354304.2:c.843-5T>C | NP_001341233.1:n.843-5T>C |