Linked Data
MyVariant Identifiers:
chr19:g.6713324A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713313A>T , CM000681.2:g.6713313A>T | GRCh38 |
| NC_000019.9:g.6713324A>T , CM000681.1:g.6713324A>T | GRCh37 |
| NC_000019.8:g.6664324A>T | NCBI36 |
| NG_009557.1:g.12339T>A , LRG_27:g.12339T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.756T>A | ENSP00000512083.1:p.Ile252= | |
| ENST00000695654.1:c.3T>A | ENSP00000512085.1:p.Ile1= | |
| ENST00000695692.1:n.203T>A | ||
| ENST00000245907.11:c.879T>A MANE Select | ENSP00000245907.4:p.Ile293= | |
| ENST00000245907.10:c.879T>A | ENSP00000245907.4:p.Ile293= | |
| ENST00000594270.5:n.3T>A | ||
| ENST00000595577.1:n.383T>A | ||
| ENST00000597442.5:n.129T>A | ||
| NM_000064.3:c.879T>A | NP_000055.2:p.Ile293= | |
| NM_000064.4:c.879T>A MANE Select | NP_000055.2:p.Ile293= |