Linked Data
ClinVar Variation Id:
966523
ClinVar RCV Id:
RCV001241222
dbSNP Id:
rs944996400
gnomAD v2:
20-10639112-A-G
gnomAD v4:
20-10658464-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658464A>G , CM000682.2:g.10658464A>G | GRCh38 |
| NC_000020.10:g.10639112A>G , CM000682.1:g.10639112A>G | GRCh37 |
| NC_000020.9:g.10587112A>G | NCBI36 |
| NG_007496.1:g.20583T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+4T>C MANE Select | ENSP00000254958.4:n.694+4T>C | |
| ENST00000254958.9:c.694+4T>C | ENSP00000254958.4:n.694+4T>C | |
| ENST00000423891.6:n.560+4T>C | ||
| NM_000214.2:c.694+4T>C | NP_000205.1:n.694+4T>C | |
| NM_000214.3:c.694+4T>C MANE Select | NP_000205.1:n.694+4T>C |