Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117262226C= , CM000672.2:g.117262226C= | GRCh38 |
| NC_000010.10:g.119021737C= , CM000672.1:g.119021737C= | GRCh37 |
| NC_000010.9:g.119011727C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003054.6:c.991+4334C= MANE Select | NP_003045.2:n.991+4334C= |
| ENST00000644641.2:c.991+4334C= MANE Select | ENSP00000496339.1:n.991+4334C= |
| NM_003054.4:c.991+4334C= | NP_003045.2:n.991+4334C= |
| NM_003054.5:c.991+4334C= | NP_003045.2:n.991+4334C= |
| ENST00000298472.9:c.991+4334C= | ENSP00000298472.5:n.991+4334C= |
| ENST00000497497.1:n.1407+4334C= |