Linked Data
MyVariant Identifiers:
chr3:g.133485219C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133766375C>A , CM000665.2:g.133766375C>A | GRCh38 |
| NC_000003.11:g.133485219C>A , CM000665.1:g.133485219C>A | GRCh37 |
| NC_000003.10:g.134967909C>A | NCBI36 |
| NG_013080.1:g.25243C>A | |
| NG_013080.2:g.109378C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1428C>A MANE Select | ENSP00000385834.3:p.Thr476= | |
| ENST00000402696.7:c.1428C>A | ENSP00000385834.3:p.Thr476= | |
| ENST00000461695.1:c.98C>A | ||
| NM_001063.3:c.1428C>A | NP_001054.1:p.Thr476= | |
| XM_011513100.1:c.1428C>A | XP_011511402.1:p.Thr476= | |
| NM_001354703.1:c.1296C>A | NP_001341632.1:p.Thr432= | |
| NM_001354704.1:c.1047C>A | NP_001341633.1:p.Thr349= | |
| NM_001063.4:c.1428C>A MANE Select | NP_001054.2:p.Thr476= | |
| NM_001354703.2:c.1296C>A | NP_001341632.2:p.Thr432= | |
| NM_001354704.2:c.1047C>A | NP_001341633.2:p.Thr349= |