Linked Data
MyVariant Identifiers:
chr19:g.6713490A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713479A>T , CM000681.2:g.6713479A>T | GRCh38 |
| NC_000019.9:g.6713490A>T , CM000681.1:g.6713490A>T | GRCh37 |
| NC_000019.8:g.6664490A>T | NCBI36 |
| NG_009557.1:g.12173T>A , LRG_27:g.12173T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.681T>A | ENSP00000512083.1:p.Thr227= | |
| ENST00000695692.1:n.128T>A | ||
| ENST00000245907.11:c.804T>A MANE Select | ENSP00000245907.4:p.Thr268= | |
| ENST00000245907.10:c.804T>A | ENSP00000245907.4:p.Thr268= | |
| ENST00000595577.1:n.308T>A | ||
| ENST00000597442.5:n.54T>A | ||
| NM_000064.3:c.804T>A | NP_000055.2:p.Thr268= | |
| NM_000064.4:c.804T>A MANE Select | NP_000055.2:p.Thr268= |