Linked Data
MyVariant Identifiers:
chr1:g.160100339G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130549G>T , CM000663.2:g.160130549G>T | GRCh38 |
| NC_000001.10:g.160100339G>T , CM000663.1:g.160100339G>T | GRCh37 |
| NC_000001.9:g.158366963G>T | NCBI36 |
| NG_008014.1:g.19792G>T , LRG_6:g.19792G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1779G>T MANE Select | ENSP00000354490.3:p.Arg593= | |
| ENST00000361216.7:c.1779G>T | ENSP00000354490.3:p.Arg593= | |
| ENST00000392233.7:c.1779G>T | ENSP00000376066.3:p.Arg593= | |
| ENST00000447527.1:c.911G>T | ||
| ENST00000472488.5:n.1882G>T | ||
| NM_000702.3:c.1779G>T | NP_000693.1:p.Arg593= | |
| NM_000702.4:c.1779G>T MANE Select | NP_000693.1:p.Arg593= |