Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816687G>T , CM000681.2:g.4816687G>T | GRCh38 |
| NC_000019.9:g.4816699G>T , CM000681.1:g.4816699G>T | GRCh37 |
| NC_000019.8:g.4767699G>T | NCBI36 |
| NG_031998.1:g.20056C>A , LRG_358:g.20056C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1691C>A MANE Select | ENSP00000248244.4:p.Ala564Glu | |
| ENST00000248244.5:c.1691C>A | ENSP00000248244.4:p.Ala564Glu | |
| ENST00000621756.1:c.1274C>A | ENSP00000479467.1:p.Ala425Glu | |
| NM_182919.3:c.1691C>A , LRG_358t1:c.1691C>A | NP_891549.1:p.Ala564Glu | |
| NM_001385678.1:c.1649C>A | NP_001372607.1:p.Ala550Glu | |
| NM_001385679.1:c.1556C>A | NP_001372608.1:p.Ala519Glu | |
| NM_001385680.1:c.1049C>A | NP_001372609.1:p.Ala350Glu | |
| NM_182919.4:c.1691C>A MANE Select | NP_891549.1:p.Ala564Glu |