Linked Data
ClinVar Variation Id:
2720697
ClinVar RCV Id:
RCV003595302
dbSNP Id:
rs1186070182
gnomAD v4:
2-189062856-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062856A>G , CM000664.2:g.189062856A>G | GRCh38 |
| NC_000002.11:g.189927582A>G , CM000664.1:g.189927582A>G | GRCh37 |
| NC_000002.10:g.189635827A>G | NCBI36 |
| NG_011799.1:g.122024T>C | |
| NG_011799.2:g.122024T>C | |
| NG_011799.3:g.167446T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1977+9T>C MANE Select | ENSP00000364000.3:n.1977+9T>C | |
| ENST00000374866.7:c.1977+9T>C | ENSP00000364000.3:n.1977+9T>C | |
| ENST00000470524.2:n.83+9T>C | ||
| ENST00000618828.1:c.816+9T>C | ENSP00000482184.1:n.816+9T>C | |
| NM_000393.3:c.1977+9T>C | NP_000384.2:n.1977+9T>C | |
| XM_011510573.1:c.1839+9T>C | XP_011508875.1:n.1839+9T>C | |
| NM_000393.4:c.1977+9T>C | NP_000384.2:n.1977+9T>C | |
| XM_011510573.3:c.1839+9T>C | XP_011508875.1:n.1839+9T>C | |
| NM_000393.5:c.1977+9T>C MANE Select | NP_000384.2:n.1977+9T>C |