Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942179C= , CM000672.2:g.94942179C= | GRCh38 |
| NC_000010.10:g.96701936C= , CM000672.1:g.96701936C= | GRCh37 |
| NC_000010.9:g.96691926C= | NCBI36 |
| NG_008385.1:g.8522C= | |
| NG_008385.2:g.9022C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.332-13C= MANE Select | ENSP00000260682.6:n.332-13C= | |
| ENST00000643112.1:c.332-13C= | ENSP00000496202.1:n.332-13C= | |
| ENST00000645207.1:n.485-13C= | ||
| ENST00000260682.6:c.332-13C= | ENSP00000260682.6:n.332-13C= | |
| ENST00000461906.1:n.357-13C= | ||
| ENST00000473496.1:n.103-13C= | ||
| NM_000771.3:c.332-13C= | NP_000762.2:n.332-13C= | |
| NM_000771.4:c.332-13C= MANE Select | NP_000762.2:n.332-13C= |