Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.8678450G>A , CM000669.2:g.8678450G>A | GRCh38 |
| NC_000007.13:g.8718080G>A , CM000669.1:g.8718080G>A | GRCh37 |
| NC_000007.12:g.8684605G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152745.3:c.55-72558G>A MANE Select | NP_689958.1:n.55-72558G>A |
| ENST00000405863.6:c.55-72558G>A MANE Select | ENSP00000384551.1:n.55-72558G>A |
| NM_152745.2:c.55-72558G>A | NP_689958.1:n.55-72558G>A |
| ENST00000405863.5:c.55-72558G>A | ENSP00000384551.1:n.55-72558G>A |
| ENST00000429542.1:c.55-72558G>A | ENSP00000408216.1:n.55-72558G>A |
| ENST00000438764.1:c.55-72558G>A | ENSP00000404689.1:n.55-72558G>A |
| XM_011515332.1:c.105+2820G>A | XP_011513634.1:n.105+2820G>A |