Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39987206G>A , CM000679.2:g.39987206G>A | GRCh38 |
| NC_000017.10:g.38143459G>A , CM000679.1:g.38143459G>A | GRCh37 |
| NC_000017.9:g.35396985G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264639.9:c.549+494G>A MANE Select | ENSP00000264639.4:n.549+494G>A | |
| ENST00000264639.8:c.549+494G>A | ENSP00000264639.4:n.549+494G>A | |
| ENST00000415039.7:c.*23+494G>A | ENSP00000407410.3:n.*23+494G>A | |
| ENST00000540504.2:c.104+494G>A | ||
| ENST00000580980.1:n.29+494G>A | ||
| NM_002809.3:c.549+494G>A | NP_002800.2:n.549+494G>A | |
| NM_002809.4:c.549+494G>A MANE Select | NP_002800.2:n.549+494G>A |