Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893233G= , CM000664.2:g.218893233G= | GRCh38 |
| NC_000002.11:g.219757955G= , CM000664.1:g.219757955G= | GRCh37 |
| NC_000002.10:g.219466199G= | NCBI36 |
| NG_012179.1:g.17701G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1216G= MANE Select | ENSP00000258411.3:p.Glu406= | |
| ENST00000258411.7:c.1216G= | ENSP00000258411.3:p.Glu406= | |
| ENST00000489887.1:n.13G= | ||
| NM_025216.2:c.1216G= | NP_079492.2:p.Glu406= | |
| XM_011511928.1:c.1165G= | XP_011510230.1:p.Glu389= | |
| XM_011511929.1:c.1120G= | XP_011510231.1:p.Glu374= | |
| XM_011511930.1:c.836G= | XP_011510232.1:p.Arg279= | |
| XM_011511929.2:c.1120G= | XP_011510231.1:p.Glu374= | |
| NM_025216.3:c.1216G= MANE Select | NP_079492.2:p.Glu406= |