Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154751446A>T , CM000666.2:g.154751446A>T | GRCh38 |
| NC_000004.11:g.155672598A>T , CM000666.1:g.155672598A>T | GRCh37 |
| NC_000004.10:g.155892048A>T | NCBI36 |
| NG_009110.1:g.12436A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004744.5:c.*2310A>T MANE Select | NP_004735.2:n.*2310A>T |
| ENST00000336356.4:c.*2310A>T MANE Select | ENSP00000337224.3:n.*2310A>T |
| NM_001301645.1:c.*2310A>T | NP_001288574.1:n.*2310A>T |
| NM_001301645.2:c.*2310A>T | NP_001288574.1:n.*2310A>T |
| NM_004744.4:c.*2310A>T | NP_004735.2:n.*2310A>T |
| ENST00000336356.3:c.*2310A>T | ENSP00000337224.3:n.*2310A>T |
| ENST00000510733.1:n.3330A>T |