Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056740C= , CM000663.2:g.94056740C= | GRCh38 |
| NC_000001.10:g.94522296C= , CM000663.1:g.94522296C= | GRCh37 |
| NC_000001.9:g.94294884C= | NCBI36 |
| NG_009073.1:g.69410G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2243G= MANE Select | ENSP00000359245.3:p.Cys748= | |
| ENST00000649773.1:c.2161-1425G= | ENSP00000496882.1:n.2161-1425G= | |
| ENST00000370225.3:c.2243G= | ENSP00000359245.3:p.Cys748= | |
| ENST00000536513.5:c.-65+6434G= | ENSP00000439707.2:n.-65+6434G= | |
| NM_000350.2:c.2243G= | NP_000341.2:p.Cys748= | |
| NM_000350.3:c.2243G= MANE Select | NP_000341.2:p.Cys748= |