Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42763377C= , CM000668.2:g.42763377C= | GRCh38 |
| NC_000006.11:g.42731115C= , CM000668.1:g.42731115C= | GRCh37 |
| NC_000006.10:g.42839093C= | NCBI36 |
| NG_054763.1:g.21420C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001318819.1:c.-365+16354C= | NP_001305748.1:n.-365+16354C= |
| NM_001318819.2:c.-365+16354C= | NP_001305748.1:n.-365+16354C= |
| ENST00000614467.4:c.-261+16354C= | ENSP00000482211.1:n.-261+16354C= |
| XR_926809.1:n.919+3443C= | |
| XR_926810.1:n.904+3443C= | |
| XR_926811.1:n.1175+3443C= |