Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119039143G= , CM000672.2:g.119039143G= | GRCh38 |
| NC_000010.10:g.120798655G= , CM000672.1:g.120798655G= | GRCh37 |
| NC_000010.9:g.120788645G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003750.4:c.3527-704C= MANE Select | NP_003741.1:n.3527-704C= |
| ENST00000369144.8:c.3527-704C= MANE Select | ENSP00000358140.3:n.3527-704C= |
| NM_003750.2:c.3527-704C= | NP_003741.1:n.3527-704C= |
| NM_003750.3:c.3527-704C= | NP_003741.1:n.3527-704C= |
| ENST00000369144.7:c.3527-704C= | ENSP00000358140.3:n.3527-704C= |
| ENST00000541549.2:c.3527-704C= | ENSP00000438178.2:n.3527-704C= |