Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30701000C>A , CM000678.2:g.30701000C>A | GRCh38 |
| NC_000016.9:g.30712321C>A , CM000678.1:g.30712321C>A | GRCh37 |
| NC_000016.8:g.30619822C>A | NCBI36 |
| NG_032135.1:g.6860C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411466.7:c.54+122C>A | ENSP00000405186.3:n.54+122C>A | |
| ENST00000706321.1:c.54+122C>A | ENSP00000516346.1:n.54+122C>A | |
| ENST00000262518.9:c.54+122C>A MANE Select | ENSP00000262518.4:n.54+122C>A | |
| ENST00000262518.8:c.54+122C>A | ENSP00000262518.4:n.54+122C>A | |
| ENST00000411466.6:c.54+122C>A | ENSP00000405186.2:n.54+122C>A | |
| NM_006662.2:c.54+122C>A | NP_006653.2:n.54+122C>A | |
| NM_006662.3:c.54+122C>A MANE Select | NP_006653.2:n.54+122C>A |