Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151011214G= , CM000669.2:g.151011214G= | GRCh38 |
| NC_000007.13:g.150708302G= , CM000669.1:g.150708302G= | GRCh37 |
| NC_000007.12:g.150339235G= | NCBI36 |
| NG_011992.1:g.25156G= | |
| NG_030317.1:g.18286C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000603.5:c.2984+228G= MANE Select | NP_000594.2:n.2984+228G= |
| ENST00000297494.8:c.2984+228G= MANE Select | ENSP00000297494.3:n.2984+228G= |
| NM_000603.4:c.2984+228G= | NP_000594.2:n.2984+228G= |
| ENST00000297494.7:c.2984+228G= | ENSP00000297494.3:n.2984+228G= |
| ENST00000461406.5:c.2366+228G= | ENSP00000417143.1:n.2366+228G= |
| ENST00000468293.5:n.467+228G= | |
| ENST00000475017.1:c.865+228G= | |
| ENST00000477227.1:n.363+228G= |