Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94417954C= , CM000669.2:g.94417954C= | GRCh38 |
| NC_000007.13:g.94047266C= , CM000669.1:g.94047266C= | GRCh37 |
| NC_000007.12:g.93885202C= | NCBI36 |
| NG_007405.1:g.28394C= , LRG_2:g.28394C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1971+123C= MANE Select | NP_000080.2:n.1971+123C= |
| ENST00000297268.11:c.1971+123C= MANE Select | ENSP00000297268.6:n.1971+123C= |
| NM_000089.3:c.1971+123C= , LRG_2t1:c.1971+123C= | NP_000080.2:n.1971+123C= |
| ENST00000297268.10:c.1971+123C= | ENSP00000297268.6:n.1971+123C= |
| ENST00000461525.5:n.60+123C= | |
| ENST00000473573.5:n.308+123C= | |
| ENST00000497316.5:n.368+123C= | |
| ENST00000620463.1:c.1965+123C= | ENSP00000477719.1:n.1965+123C= |