Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87644432C>A , CM000678.2:g.87644432C>A | GRCh38 |
| NC_000016.9:g.87678038C>A , CM000678.1:g.87678038C>A | GRCh37 |
| NC_000016.8:g.86235539C>A | NCBI36 |
| NG_009797.1:g.46540C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020655.4:c.557C>A MANE Select | NP_065706.2:p.Ala186Asp |
| ENST00000284262.3:c.557C>A MANE Select | ENSP00000284262.2:p.Ala186Asp |
| NM_020655.3:c.557C>A | NP_065706.2:p.Ala186Asp |
| NR_073379.2:n.271C>A | |
| NR_073379.3:n.271C>A | |
| ENST00000284262.2:c.557C>A | ENSP00000284262.2:p.Ala186Asp |
| ENST00000537256.5:n.271C>A | |
| XM_006721237.2:c.146C>A | XP_006721300.1:p.Ala49Asp |