Linked Data
MyVariant Identifiers:
chr19:g.6713293G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713282G>T , CM000681.2:g.6713282G>T | GRCh38 |
| NC_000019.9:g.6713293G>T , CM000681.1:g.6713293G>T | GRCh37 |
| NC_000019.8:g.6664293G>T | NCBI36 |
| NG_009557.1:g.12370C>A , LRG_27:g.12370C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.787C>A | ENSP00000512083.1:p.Arg263= | |
| ENST00000695654.1:c.34C>A | ENSP00000512085.1:p.Arg12= | |
| ENST00000695692.1:n.234C>A | ||
| ENST00000245907.11:c.910C>A MANE Select | ENSP00000245907.4:p.Arg304= | |
| ENST00000245907.10:c.910C>A | ENSP00000245907.4:p.Arg304= | |
| ENST00000594270.5:n.34C>A | ||
| ENST00000595577.1:n.414C>A | ||
| ENST00000597442.5:n.160C>A | ||
| NM_000064.3:c.910C>A | NP_000055.2:p.Arg304= | |
| NM_000064.4:c.910C>A MANE Select | NP_000055.2:p.Arg304= |