Linked Data
gnomAD v4:
20-10658376-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658376G>T , CM000682.2:g.10658376G>T | GRCh38 |
| NC_000020.10:g.10639024G>T , CM000682.1:g.10639024G>T | GRCh37 |
| NC_000020.9:g.10587024G>T | NCBI36 |
| NG_007496.1:g.20671C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+92C>A MANE Select | ENSP00000254958.4:n.694+92C>A | |
| ENST00000254958.9:c.694+92C>A | ENSP00000254958.4:n.694+92C>A | |
| ENST00000423891.6:n.560+92C>A | ||
| NM_000214.2:c.694+92C>A | NP_000205.1:n.694+92C>A | |
| NM_000214.3:c.694+92C>A MANE Select | NP_000205.1:n.694+92C>A |