Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.919949C>A , CM000681.2:g.919949C>A | GRCh38 |
| NC_000019.9:g.919949C>A , CM000681.1:g.919949C>A | GRCh37 |
| NC_000019.8:g.870949C>A | NCBI36 |
| NG_008277.1:g.7608C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032551.5:c.581C>A MANE Select | NP_115940.2:p.Ala194Asp |
| ENST00000234371.10:c.581C>A MANE Select | ENSP00000234371.3:p.Ala194Asp |
| NM_032551.4:c.581C>A | NP_115940.2:p.Ala194Asp |
| ENST00000234371.9:c.581C>A | ENSP00000234371.3:p.Ala194Asp |
| ENST00000606939.2:c.505+324C>A | ENSP00000475639.1:n.505+324C>A |
| XM_017027382.1:c.505+324C>A | XP_016882871.1:n.505+324C>A |