Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404729C>T , CM000679.2:g.42404729C>T | GRCh38 |
| NC_000017.10:g.40556747C>T , CM000679.1:g.40556747C>T | GRCh37 |
| NC_000017.9:g.37810273C>T | NCBI36 |
| NG_015845.1:g.23592G>A | |
| NG_015845.2:g.23592G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1131G>A MANE Select | ENSP00000349541.4:p.Glu377= | |
| ENST00000357037.5:c.1131G>A | ENSP00000349541.4:p.Glu377= | |
| NM_012232.5:c.1131G>A | NP_036364.2:p.Glu377= | |
| NM_012232.6:c.1131G>A MANE Select | NP_036364.2:p.Glu377= |