Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56973539G>A , CM000678.2:g.56973539G>A | GRCh38 |
| NC_000016.9:g.57007451G>A , CM000678.1:g.57007451G>A | GRCh37 |
| NC_000016.8:g.55564952G>A | NCBI36 |
| NG_008952.1:g.16617G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000078.3:c.930+29G>A MANE Select | NP_000069.2:n.930+29G>A |
| ENST00000200676.8:c.930+29G>A MANE Select | ENSP00000200676.3:n.930+29G>A |
| NM_000078.2:c.930+29G>A | NP_000069.2:n.930+29G>A |
| NM_001286085.1:c.750+1456G>A | NP_001273014.1:n.750+1456G>A |
| NM_001286085.2:c.750+1456G>A | NP_001273014.1:n.750+1456G>A |
| ENST00000200676.7:c.930+29G>A | ENSP00000200676.3:n.930+29G>A |
| ENST00000379780.6:c.750+1456G>A | ENSP00000369106.2:n.750+1456G>A |
| ENST00000566128.1:c.735+29G>A | ENSP00000456276.1:n.735+29G>A |