Linked Data
gnomAD v4:
20-10643847-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643847A>T , CM000682.2:g.10643847A>T | GRCh38 |
| NC_000020.10:g.10624495A>T , CM000682.1:g.10624495A>T | GRCh37 |
| NC_000020.9:g.10572495A>T | NCBI36 |
| NG_007496.1:g.35200T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2389T>A MANE Select | ENSP00000254958.4:p.Cys797Ser | |
| ENST00000617965.2:n.2978T>A | ||
| ENST00000254958.9:c.2389T>A | ENSP00000254958.4:p.Cys797Ser | |
| ENST00000423891.6:n.2255T>A | ||
| NM_000214.2:c.2389T>A | NP_000205.1:p.Cys797Ser | |
| NM_000214.3:c.2389T>A MANE Select | NP_000205.1:p.Cys797Ser |