Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119050518T= , CM000672.2:g.119050518T= | GRCh38 |
| NC_000010.10:g.120810030T= , CM000672.1:g.120810030T= | GRCh37 |
| NC_000010.9:g.120800020T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369144.8:c.2473+3A= MANE Select | ENSP00000358140.3:n.2473+3A= | |
| ENST00000369144.7:c.2473+3A= | ENSP00000358140.3:n.2473+3A= | |
| ENST00000541549.2:c.2473+3A= | ENSP00000438178.2:n.2473+3A= | |
| NM_003750.2:c.2473+3A= | NP_003741.1:n.2473+3A= | |
| NM_003750.3:c.2473+3A= | NP_003741.1:n.2473+3A= | |
| NM_003750.4:c.2473+3A= MANE Select | NP_003741.1:n.2473+3A= |