Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875822C>A , CM000681.2:g.48875822C>A | GRCh38 |
| NC_000019.9:g.49379079C>A , CM000681.1:g.49379079C>A | GRCh37 |
| NC_000019.8:g.54070891C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*729C>A | ENSP00000469239.2:n.*729C>A | |
| ENST00000704026.1:c.1589C>A | ENSP00000515636.1:p.Ala530Asp | |
| ENST00000704027.1:c.1922C>A | ENSP00000515637.1:p.Ala641Asp | |
| ENST00000200453.6:c.1874C>A MANE Select | ENSP00000200453.4:p.Ala625Asp | |
| ENST00000200453.5:c.1874C>A | ENSP00000200453.4:p.Ala625Asp | |
| ENST00000600406.1:c.1505C>A | ||
| NM_014330.3:c.1874C>A | NP_055145.3:p.Ala625Asp | |
| NM_014330.5:c.1874C>A MANE Select | NP_055145.3:p.Ala625Asp |