Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471309G>T , CM000677.2:g.40471309G>T | GRCh38 |
| NC_000015.9:g.40763508G>T , CM000677.1:g.40763508G>T | GRCh37 |
| NC_000015.8:g.38550800G>T | NCBI36 |
| NG_017074.1:g.5349G>T , LRG_600:g.5349G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.96G>T MANE Select | NP_569735.1:p.Ala32= |
| ENST00000306243.7:c.96G>T MANE Select | ENSP00000307297.6:p.Ala32= |
| NM_130468.3:c.96G>T , LRG_600t1:c.96G>T | NP_569735.1:p.Ala32= |
| ENST00000306243.6:c.96G>T | ENSP00000307297.5:p.Ala32= |
| ENST00000559991.1:c.96G>T | ENSP00000453882.1:p.Ala32= |