Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151010400C= , CM000669.2:g.151010400C= | GRCh38 |
| NC_000007.13:g.150707488C= , CM000669.1:g.150707488C= | GRCh37 |
| NC_000007.12:g.150338421C= | NCBI36 |
| NG_011992.1:g.24342C= | |
| NG_030317.1:g.19100G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000603.5:c.2685+113C= MANE Select | NP_000594.2:n.2685+113C= |
| ENST00000297494.8:c.2685+113C= MANE Select | ENSP00000297494.3:n.2685+113C= |
| NM_000603.4:c.2685+113C= | NP_000594.2:n.2685+113C= |
| ENST00000297494.7:c.2685+113C= | ENSP00000297494.3:n.2685+113C= |
| ENST00000461406.5:c.2067+113C= | ENSP00000417143.1:n.2067+113C= |
| ENST00000475017.1:c.566+113C= |