Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133642337A= , CM000671.2:g.133642337A= | GRCh38 |
| NC_000009.11:g.136507459A= , CM000671.1:g.136507459A= | GRCh37 |
| NC_000009.10:g.135497280A= | NCBI36 |
| NG_008645.1:g.10975A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.617A= MANE Select | NP_000778.3:p.Glu206= |
| ENST00000393056.8:c.617A= MANE Select | ENSP00000376776.2:p.Glu206= |
| NM_000787.3:c.617A= | NP_000778.3:p.Glu206= |
| ENST00000263611.2:c.428A= | ENSP00000263611.2:p.Glu143= |
| ENST00000263611.3:c.464A= | ENSP00000263611.3:p.Glu155= |
| ENST00000393056.6:c.617A= | ENSP00000376776.2:p.Glu206= |