Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436924A= , CM000678.2:g.67436924A= | GRCh38 |
| NC_000016.9:g.67470827A= , CM000678.1:g.67470827A= | GRCh37 |
| NC_000016.8:g.66028328A= | NCBI36 |
| NG_011482.1:g.49263T= | |
| NG_016549.1:g.10792A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.1139A= MANE Select | ENSP00000316786.5:p.Gln380= | |
| ENST00000326152.5:c.1139A= | ENSP00000316786.5:p.Gln380= | |
| NM_000196.3:c.1139A= | NP_000187.3:p.Gln380= | |
| NM_000196.4:c.1139A= MANE Select | NP_000187.3:p.Gln380= |