Linked Data
MyVariant Identifiers:
chr20:g.6758932C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778285C>A , CM000682.2:g.6778285C>A | GRCh38 |
| NC_000020.10:g.6758932C>A , CM000682.1:g.6758932C>A | GRCh37 |
| NC_000020.9:g.6706932C>A | NCBI36 |
| NG_023233.1:g.15188C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.387C>A MANE Select | ENSP00000368104.3:p.Thr129= | |
| ENST00000378827.4:c.387C>A | ENSP00000368104.3:p.Thr129= | |
| NM_001200.2:c.387C>A | NP_001191.1:p.Thr129= | |
| XM_011529323.1:c.-82C>A | XP_011527625.1:n.-82C>A | |
| NM_001200.3:c.387C>A | NP_001191.1:p.Thr129= | |
| NM_001200.4:c.387C>A MANE Select | NP_001191.1:p.Thr129= |