Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151011001A>T , CM000669.2:g.151011001A>T | GRCh38 |
| NC_000007.13:g.150708089A>T , CM000669.1:g.150708089A>T | GRCh37 |
| NC_000007.12:g.150339022A>T | NCBI36 |
| NG_011992.1:g.24943A>T | |
| NG_030317.1:g.18499T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000603.5:c.2984+15A>T MANE Select | NP_000594.2:n.2984+15A>T |
| ENST00000297494.8:c.2984+15A>T MANE Select | ENSP00000297494.3:n.2984+15A>T |
| NM_000603.4:c.2984+15A>T | NP_000594.2:n.2984+15A>T |
| ENST00000297494.7:c.2984+15A>T | ENSP00000297494.3:n.2984+15A>T |
| ENST00000461406.5:c.2366+15A>T | ENSP00000417143.1:n.2366+15A>T |
| ENST00000468293.5:n.467+15A>T | |
| ENST00000475017.1:c.865+15A>T | |
| ENST00000477227.1:n.363+15A>T |