Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172959G>A , CM000678.2:g.172959G>A | GRCh38 |
| NC_000016.9:g.222958G>A , CM000678.1:g.222958G>A | GRCh37 |
| NC_000016.8:g.162958G>A | NCBI36 |
| NG_000006.1:g.33822G>A | |
| NG_059186.1:g.1309G>A | |
| NG_059271.1:g.5113G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.47G>A MANE Select | ENSP00000251595.6:p.Gly16Asp | |
| ENST00000251595.10:c.47G>A | ENSP00000251595.6:p.Gly16Asp | |
| ENST00000397806.1:c.-2+1G>A | ENSP00000380908.1:n.-2+1G>A | |
| ENST00000482565.1:n.66G>A | ||
| ENST00000484216.1:n.16G>A | ||
| NM_000517.4:c.47G>A | NP_000508.1:p.Gly16Asp | |
| NM_000517.6:c.47G>A MANE Select | NP_000508.1:p.Gly16Asp |