Linked Data
ClinVar Variation Id:
1593742
ClinVar RCV Id:
RCV002105181
dbSNP Id:
rs566576965
ExAC:
20:10625495 G / C
gnomAD v2:
20-10625495-G-C
gnomAD v3:
20-10644847-G-C
gnomAD v4:
20-10644847-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644847G>C , CM000682.2:g.10644847G>C | GRCh38 |
| NC_000020.10:g.10625495G>C , CM000682.1:g.10625495G>C | GRCh37 |
| NC_000020.9:g.10573495G>C | NCBI36 |
| NG_007496.1:g.34200C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2344+16C>G MANE Select | ENSP00000254958.4:n.2344+16C>G | |
| ENST00000617965.2:n.2933+16C>G | ||
| ENST00000254958.9:c.2344+16C>G | ENSP00000254958.4:n.2344+16C>G | |
| ENST00000423891.6:n.2210+16C>G | ||
| ENST00000488480.2:n.757C>G | ||
| NM_000214.2:c.2344+16C>G | NP_000205.1:n.2344+16C>G | |
| NM_000214.3:c.2344+16C>G MANE Select | NP_000205.1:n.2344+16C>G |