Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116820918C= , CM000673.2:g.116820918C= | GRCh38 |
| NC_000011.9:g.116691634C= , CM000673.1:g.116691634C= | GRCh37 |
| NC_000011.8:g.116196844C= | NCBI36 |
| NG_012044.1:g.7378G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000482.4:c.1140G= MANE Select | NP_000473.2:p.Gln380= |
| ENST00000357780.5:c.1140G= MANE Select | ENSP00000350425.3:p.Gln380= |
| NM_000482.3:c.1140G= | NP_000473.2:p.Gln380= |
| ENST00000357780.4:c.1140G= | ENSP00000350425.3:p.Gln380= |