Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351754C= , CM000679.2:g.44351754C= | GRCh38 |
| NC_000017.10:g.42429122C= , CM000679.1:g.42429122C= | GRCh37 |
| NC_000017.9:g.39784648C= | NCBI36 |
| NG_007886.1:g.11632C= , LRG_661:g.11632C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1138C= MANE Select | ENSP00000053867.2:p.Gln380= | |
| ENST00000639447.1:c.1136+2C= | ENSP00000492014.1:n.1136+2C= | |
| ENST00000053867.7:c.1138C= | ENSP00000053867.2:p.Gln380= | |
| ENST00000586443.1:c.579C= | ||
| ENST00000589265.5:c.667C= | ENSP00000467616.1:p.Gln223= | |
| ENST00000589923.1:n.396C= | ||
| NM_002087.3:c.1138C= | NP_002078.1:p.Gln380= | |
| XM_005257253.1:c.1138C= | XP_005257310.1:p.Gln380= | |
| XM_024450730.1:c.1138C= | XP_024306498.1:p.Gln380= | |
| NM_002087.4:c.1138C= MANE Select | NP_002078.1:p.Gln380= |