Linked Data
dbSNP Id:
rs200933584
ExAC:
20:10625494 G / T
gnomAD v2:
20-10625494-G-T
gnomAD v3:
20-10644846-G-T
gnomAD v4:
20-10644846-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644846G>T , CM000682.2:g.10644846G>T | GRCh38 |
| NC_000020.10:g.10625494G>T , CM000682.1:g.10625494G>T | GRCh37 |
| NC_000020.9:g.10573494G>T | NCBI36 |
| NG_007496.1:g.34201C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2344+17C>A MANE Select | ENSP00000254958.4:n.2344+17C>A | |
| ENST00000617965.2:n.2933+17C>A | ||
| ENST00000254958.9:c.2344+17C>A | ENSP00000254958.4:n.2344+17C>A | |
| ENST00000423891.6:n.2210+17C>A | ||
| ENST00000488480.2:n.758C>A | ||
| NM_000214.2:c.2344+17C>A | NP_000205.1:n.2344+17C>A | |
| NM_000214.3:c.2344+17C>A MANE Select | NP_000205.1:n.2344+17C>A |