Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87644865C>T , CM000678.2:g.87644865C>T | GRCh38 |
| NC_000016.9:g.87678471C>T , CM000678.1:g.87678471C>T | GRCh37 |
| NC_000016.8:g.86235972C>T | NCBI36 |
| NG_009797.1:g.46973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284262.3:c.990C>T MANE Select | ENSP00000284262.2:p.Asp330= | |
| ENST00000284262.2:c.990C>T | ENSP00000284262.2:p.Asp330= | |
| ENST00000537256.5:n.704C>T | ||
| NM_020655.3:c.990C>T | NP_065706.2:p.Asp330= | |
| NR_073379.2:n.704C>T | ||
| XM_006721237.2:c.579C>T | XP_006721300.1:p.Asp193= | |
| NM_020655.4:c.990C>T MANE Select | NP_065706.2:p.Asp330= | |
| NR_073379.3:n.704C>T |