Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644572C= , CM000677.2:g.23644572C= | GRCh38 |
| NC_000015.9:g.23889719C= , CM000677.1:g.23889719C= | GRCh37 |
| NC_000015.8:g.21440812C= | NCBI36 |
| NG_016776.1:g.8275G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.3171G= MANE Select | ENSP00000497810.1:p.Glu1057= | |
| ENST00000532292.2:c.3171G= | ENSP00000433433.2:p.Glu1057= | |
| NM_019066.4:c.3171G= | NP_061939.3:p.Glu1057= | |
| NM_019066.5:c.3171G= MANE Select | NP_061939.3:p.Glu1057= |