Linked Data
ClinVar Variation Id:
896224
ClinVar RCV Id:
RCV001138744
dbSNP Id:
rs2067513848
gnomAD v4:
20-10673536-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673536C>A , CM000682.2:g.10673536C>A | GRCh38 |
| NC_000020.10:g.10654184C>A , CM000682.1:g.10654184C>A | GRCh37 |
| NC_000020.9:g.10602184C>A | NCBI36 |
| NG_007496.1:g.5511G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-6G>T MANE Select | ENSP00000254958.4:n.-6G>T | |
| ENST00000254958.9:c.-6G>T | ENSP00000254958.4:n.-6G>T | |
| NM_000214.2:c.-6G>T | NP_000205.1:n.-6G>T | |
| NM_000214.3:c.-6G>T MANE Select | NP_000205.1:n.-6G>T |