Linked Data
MyVariant Identifiers:
chr19:g.7594070C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529184C>A , CM000681.2:g.7529184C>A | GRCh38 |
| NC_000019.9:g.7594070C>A , CM000681.1:g.7594070C>A | GRCh37 |
| NC_000019.8:g.7500070C>A | NCBI36 |
| NG_013374.1:g.33C>A | |
| NG_015806.1:g.11575C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1218C>A MANE Select | ENSP00000264079.5:p.Thr406= | |
| ENST00000264079.10:c.1218C>A | ENSP00000264079.5:p.Thr406= | |
| ENST00000394321.9:n.1533C>A | ||
| ENST00000594692.1:n.214C>A | ||
| ENST00000595860.5:n.401C>A | ||
| ENST00000599334.1:c.95C>A | ||
| NM_020533.2:c.1218C>A | NP_065394.1:p.Thr406= | |
| NM_020533.3:c.1218C>A MANE Select | NP_065394.1:p.Thr406= |