Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43758589C>T , CM000679.2:g.43758589C>T | GRCh38 |
| NC_000017.10:g.41835957C>T , CM000679.1:g.41835957C>T | GRCh37 |
| NC_000017.9:g.39191483C>T | NCBI36 |
| NG_008078.2:g.5200G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025237.3:c.153G>A MANE Select | NP_079513.1:p.Glu51= |
| ENST00000301691.3:c.153G>A MANE Select | ENSP00000301691.1:p.Glu51= |
| NM_025237.2:c.153G>A | NP_079513.1:p.Glu51= |
| ENST00000301691.2:c.153G>A | ENSP00000301691.1:p.Glu51= |