Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107072G= , CM000674.2:g.91107072G= | GRCh38 |
| NC_000012.11:g.91500849G= , CM000674.1:g.91500849G= | GRCh37 |
| NC_000012.10:g.90024980G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+1046C= MANE Select | ENSP00000266718.4:n.862+1046C= | |
| ENST00000266718.4:c.862+1046C= | ENSP00000266718.4:n.862+1046C= | |
| ENST00000546642.1:n.612+1046C= | ||
| ENST00000548071.1:n.255+1046C= | ||
| NM_002345.3:c.862+1046C= | NP_002336.1:n.862+1046C= | |
| NM_002345.4:c.862+1046C= MANE Select | NP_002336.1:n.862+1046C= |