Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951000A= , CM000674.2:g.49951000A= | GRCh38 |
| NC_000012.11:g.50344783A= , CM000674.1:g.50344783A= | GRCh37 |
| NC_000012.10:g.48631050A= | NCBI36 |
| NG_008913.1:g.5260A= , LRG_717:g.5260A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.170A= MANE Select | NP_000477.1:p.Gln57= |
| ENST00000199280.4:c.170A= MANE Select | ENSP00000199280.3:p.Gln57= |
| NM_000486.5:c.170A= , LRG_717t1:c.170A= | NP_000477.1:p.Gln57= |
| ENST00000199280.3:c.170A= | ENSP00000199280.3:p.Gln57= |
| ENST00000550862.1:c.170A= | ENSP00000450022.1:p.Gln57= |
| ENST00000551526.5:c.170A= | ENSP00000447148.1:p.Gln57= |