Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8536852C= , CM000685.2:g.8536852C= | GRCh38 |
| NC_000023.10:g.8504893C= , CM000685.1:g.8504893C= | GRCh37 |
| NC_000023.9:g.8464893C= | NCBI36 |
| NG_007088.1:g.200335G= | |
| NG_007088.2:g.200335G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000216.4:c.1540G= MANE Select | NP_000207.2:p.Glu514= |
| ENST00000262648.8:c.1540G= MANE Select | ENSP00000262648.3:p.Glu514= |
| NM_000216.2:c.1540G= | NP_000207.2:p.Glu514= |
| NM_000216.3:c.1540G= | NP_000207.2:p.Glu514= |
| ENST00000262648.7:c.1540G= | ENSP00000262648.3:p.Glu514= |
| ENST00000481896.1:n.85G= | |
| ENST00000619786.1:c.1537G= | ENSP00000478734.1:p.Glu513= |