Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755617T= , CM000679.2:g.43755617T= | GRCh38 |
| NC_000017.10:g.41832985T= , CM000679.1:g.41832985T= | GRCh37 |
| NC_000017.9:g.39188511T= | NCBI36 |
| NG_008078.2:g.8172A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301691.3:c.367A= MANE Select | ENSP00000301691.1:p.Lys123= | |
| ENST00000301691.2:c.367A= | ENSP00000301691.1:p.Lys123= | |
| NM_025237.2:c.367A= | NP_079513.1:p.Lys123= | |
| NM_025237.3:c.367A= MANE Select | NP_079513.1:p.Lys123= |