Linked Data
ClinVar Variation Id:
2096067
ClinVar RCV Id:
RCV003006027
dbSNP Id:
rs1316870945
gnomAD v2:
1-94473179-A-G
gnomAD v4:
1-94007623-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007623A>G , CM000663.2:g.94007623A>G | GRCh38 |
| NC_000001.10:g.94473179A>G , CM000663.1:g.94473179A>G | GRCh37 |
| NC_000001.9:g.94245767A>G | NCBI36 |
| NG_009073.1:g.118527T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6005+11T>C MANE Select | ENSP00000359245.3:n.6005+11T>C | |
| ENST00000370225.3:c.6005+11T>C | ENSP00000359245.3:n.6005+11T>C | |
| ENST00000465352.1:n.421+11T>C | ||
| ENST00000484388.1:n.119+11T>C | ||
| ENST00000536513.5:c.2381+11T>C | ENSP00000439707.2:n.2381+11T>C | |
| NM_000350.2:c.6005+11T>C | NP_000341.2:n.6005+11T>C | |
| NM_000350.3:c.6005+11T>C MANE Select | NP_000341.2:n.6005+11T>C |