Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57141483C>A , CM000674.2:g.57141483C>A | GRCh38 |
| NC_000012.11:g.57535266C>A , CM000674.1:g.57535266C>A | GRCh37 |
| NC_000012.10:g.55821533C>A | NCBI36 |
| NG_016444.1:g.17985C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.300C>A MANE Select | NP_002323.2:p.Asp100Glu |
| ENST00000243077.8:c.300C>A MANE Select | ENSP00000243077.3:p.Asp100Glu |
| NM_002332.2:c.300C>A | NP_002323.2:p.Asp100Glu |
| ENST00000243077.7:c.300C>A | ENSP00000243077.3:p.Asp100Glu |
| ENST00000338962.8:c.300C>A | ENSP00000341264.4:p.Asp100Glu |
| ENST00000553277.5:c.300C>A | ENSP00000451449.1:p.Asp100Glu |
| ENST00000554174.1:c.300C>A | ENSP00000451737.1:p.Asp100Glu |
| XM_017019303.1:c.300C>A | XP_016874792.1:p.Asp100Glu |