Linked Data
MyVariant Identifiers:
chr20:g.44640256G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011617G>A , CM000682.2:g.46011617G>A | GRCh38 |
| NC_000020.10:g.44640256G>A , CM000682.1:g.44640256G>A | GRCh37 |
| NC_000020.9:g.44073663G>A | NCBI36 |
| NG_011468.1:g.7710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.867G>A MANE Select | ENSP00000361405.3:p.Gln289= | |
| NM_004994.2:c.867G>A | NP_004985.2:p.Gln289= | |
| NM_004994.3:c.867G>A MANE Select | NP_004985.2:p.Gln289= |