Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455968C= , CM000679.2:g.7455968C= | GRCh38 |
| NC_000017.10:g.7359287C= , CM000679.1:g.7359287C= | GRCh37 |
| NC_000017.9:g.7300011C= | NCBI36 |
| NG_008026.1:g.15882C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.1365+27C= MANE Select | ENSP00000304290.2:n.1365+27C= | |
| ENST00000306071.6:c.1365+27C= | ENSP00000304290.2:n.1365+27C= | |
| ENST00000536404.6:c.1149+27C= | ENSP00000439209.2:n.1149+27C= | |
| ENST00000575379.1:c.-28+27C= | ENSP00000461751.1:n.-28+27C= | |
| ENST00000576360.1:c.1002+27C= | ENSP00000459092.1:n.1002+27C= | |
| NM_000747.2:c.1365+27C= | NP_000738.2:n.1365+27C= | |
| NM_000747.3:c.1365+27C= MANE Select | NP_000738.2:n.1365+27C= |