Linked Data
MyVariant Identifiers:
chr20:g.10625626G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644978G>T , CM000682.2:g.10644978G>T | GRCh38 |
| NC_000020.10:g.10625626G>T , CM000682.1:g.10625626G>T | GRCh37 |
| NC_000020.9:g.10573626G>T | NCBI36 |
| NG_007496.1:g.34069C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2229C>A MANE Select | ENSP00000254958.4:p.Ala743= | |
| ENST00000617965.2:n.2818C>A | ||
| ENST00000254958.9:c.2229C>A | ENSP00000254958.4:p.Ala743= | |
| ENST00000423891.6:n.2095C>A | ||
| ENST00000488480.2:n.626C>A | ||
| NM_000214.2:c.2229C>A | NP_000205.1:p.Ala743= | |
| NM_000214.3:c.2229C>A MANE Select | NP_000205.1:p.Ala743= |