Linked Data
ClinVar Variation Id:
1575285
ClinVar RCV Id:
RCV002083446
dbSNP Id:
rs1342386550
gnomAD v2:
20-10639099-C-T
gnomAD v4:
20-10658451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658451C>T , CM000682.2:g.10658451C>T | GRCh38 |
| NC_000020.10:g.10639099C>T , CM000682.1:g.10639099C>T | GRCh37 |
| NC_000020.9:g.10587099C>T | NCBI36 |
| NG_007496.1:g.20596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+17G>A MANE Select | ENSP00000254958.4:n.694+17G>A | |
| ENST00000254958.9:c.694+17G>A | ENSP00000254958.4:n.694+17G>A | |
| ENST00000423891.6:n.560+17G>A | ||
| NM_000214.2:c.694+17G>A | NP_000205.1:n.694+17G>A | |
| NM_000214.3:c.694+17G>A MANE Select | NP_000205.1:n.694+17G>A |