Linked Data
MyVariant Identifiers:
chr1:g.43394648G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42928977G>T , CM000663.2:g.42928977G>T | GRCh38 |
| NC_000001.10:g.43394648G>T , CM000663.1:g.43394648G>T | GRCh37 |
| NC_000001.9:g.43167235G>T | NCBI36 |
| NG_008232.1:g.35200C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1029C>A MANE Select | ENSP00000416293.2:p.Gly343= | |
| ENST00000674545.1:n.523C>A | ||
| ENST00000674765.1:c.1029C>A | ENSP00000501811.1:p.Gly343= | |
| ENST00000675112.1:n.1330C>A | ||
| ENST00000676254.1:n.1478C>A | ||
| ENST00000426263.7:c.1029C>A | ENSP00000416293.2:p.Gly343= | |
| ENST00000475162.3:c.415+1649C>A | ||
| ENST00000630287.2:c.*344C>A | ENSP00000486694.1:n.*344C>A | |
| NM_006516.2:c.1029C>A | NP_006507.2:p.Gly343= | |
| NM_006516.3:c.1029C>A | NP_006507.2:p.Gly343= | |
| NM_006516.4:c.1029C>A MANE Select | NP_006507.2:p.Gly343= |