Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129552C= , CM000664.2:g.208129552C= | GRCh38 |
| NC_000002.11:g.208994276C= , CM000664.1:g.208994276C= | GRCh37 |
| NC_000002.10:g.208702521C= | NCBI36 |
| NG_008038.1:g.5279G= | |
| NG_008039.1:g.38G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.141G= MANE Select | ENSP00000282141.3:p.Glu47= | |
| ENST00000282141.3:c.141G= | ENSP00000282141.3:p.Glu47= | |
| NM_020989.3:c.141G= | NP_066269.1:p.Glu47= | |
| NR_038437.1:n.98-7504C= | ||
| XM_011510661.1:c.141G= | XP_011508963.1:p.Glu47= | |
| XM_011510662.1:c.141G= | XP_011508964.1:p.Glu47= | |
| XM_011510663.1:c.12G= | XP_011508965.1:p.Glu4= | |
| NM_020989.4:c.141G= MANE Select | NP_066269.1:p.Glu47= |