Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150992855G>T , CM000669.2:g.150992855G>T | GRCh38 |
| NC_000007.13:g.150689943G>T , CM000669.1:g.150689943G>T | GRCh37 |
| NC_000007.12:g.150320876G>T | NCBI36 |
| NG_011992.1:g.6797G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000603.5:c.-51-898G>T MANE Select | NP_000594.2:n.-51-898G>T |
| ENST00000297494.8:c.-51-898G>T MANE Select | ENSP00000297494.3:n.-51-898G>T |
| NM_000603.4:c.-51-898G>T | NP_000594.2:n.-51-898G>T |
| ENST00000297494.7:c.-51-898G>T | ENSP00000297494.3:n.-51-898G>T |
| ENST00000461406.5:c.-149+1555G>T | ENSP00000417143.1:n.-149+1555G>T |