Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028058A>T , CM000666.2:g.52028058A>T | GRCh38 |
| NC_000004.11:g.52894224A>T , CM000666.1:g.52894224A>T | GRCh37 |
| NC_000004.10:g.52588981A>T | NCBI36 |
| NG_008891.1:g.15262T>A , LRG_204:g.15262T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.663T>A MANE Select | ENSP00000370839.6:p.Asp221Glu | |
| ENST00000381431.9:c.663T>A | ENSP00000370839.5:p.Asp221Glu | |
| NM_000232.4:c.663T>A , LRG_204t1:c.663T>A | NP_000223.1:p.Asp221Glu | |
| XM_006714049.2:c.366T>A | XP_006714112.1:p.Asp122Glu | |
| XM_011534403.1:c.453T>A | XP_011532705.1:p.Asp151Glu | |
| XM_011534404.1:c.366T>A | XP_011532706.1:p.Asp122Glu | |
| NM_000232.5:c.663T>A MANE Select | NP_000223.1:p.Asp221Glu |