Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42763371C= , CM000668.2:g.42763371C= | GRCh38 |
| NC_000006.11:g.42731109C= , CM000668.1:g.42731109C= | GRCh37 |
| NC_000006.10:g.42839087C= | NCBI36 |
| NG_054763.1:g.21414C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614467.4:c.-261+16348C= | ENSP00000482211.1:n.-261+16348C= | |
| XR_926809.1:n.919+3437C= | ||
| XR_926810.1:n.904+3437C= | ||
| XR_926811.1:n.1175+3437C= | ||
| NM_001318819.1:c.-365+16348C= | NP_001305748.1:n.-365+16348C= | |
| NM_001318819.2:c.-365+16348C= | NP_001305748.1:n.-365+16348C= |