Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733844A= , CM000679.2:g.47733844A= | GRCh38 |
| NC_000017.10:g.45811210A= , CM000679.1:g.45811210A= | GRCh37 |
| NC_000017.9:g.43166209A= | NCBI36 |
| NG_012166.1:g.5601A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013351.2:c.390A= MANE Select | NP_037483.1:p.Gly130= |
| ENST00000177694.2:c.390A= MANE Select | ENSP00000177694.1:p.Gly130= |
| NM_013351.1:c.390A= | NP_037483.1:p.Gly130= |
| ENST00000177694.1:c.390A= | ENSP00000177694.1:p.Gly130= |
| ENST00000581328.1:n.420A= | |
| XM_011524698.1:c.390A= | XP_011523000.1:p.Gly130= |