Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71998510C= , CM000674.2:g.71998510C= | GRCh38 |
| NC_000012.11:g.72392290C= , CM000674.1:g.72392290C= | GRCh37 |
| NC_000012.10:g.70678557C= | NCBI36 |
| NG_008279.1:g.64665C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.1068+3945C= MANE Select | NP_775489.2:n.1068+3945C= |
| ENST00000333850.4:c.1068+3945C= MANE Select | ENSP00000329093.3:n.1068+3945C= |
| NM_173353.3:c.1068+3945C= | NP_775489.2:n.1068+3945C= |
| ENST00000333850.3:c.1068+3945C= | ENSP00000329093.3:n.1068+3945C= |
| XM_011537899.1:c.474+3945C= | XP_011536201.1:n.474+3945C= |