Linked Data
ClinVar Variation Id:
2023916
ClinVar RCV Id:
RCV002862927
dbSNP Id:
rs1162524047
gnomAD v2:
1-94473866-A-G
gnomAD v4:
1-94008310-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008310A>G , CM000663.2:g.94008310A>G | GRCh38 |
| NC_000001.10:g.94473866A>G , CM000663.1:g.94473866A>G | GRCh37 |
| NC_000001.9:g.94246454A>G | NCBI36 |
| NG_009073.1:g.117840T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5836-13T>C MANE Select | ENSP00000359245.3:n.5836-13T>C | |
| ENST00000370225.3:c.5836-13T>C | ENSP00000359245.3:n.5836-13T>C | |
| ENST00000465352.1:n.252-13T>C | ||
| ENST00000536513.5:c.2212-13T>C | ENSP00000439707.2:n.2212-13T>C | |
| NM_000350.2:c.5836-13T>C | NP_000341.2:n.5836-13T>C | |
| NM_000350.3:c.5836-13T>C MANE Select | NP_000341.2:n.5836-13T>C |