Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154751554G>A , CM000666.2:g.154751554G>A | GRCh38 |
| NC_000004.11:g.155672706G>A , CM000666.1:g.155672706G>A | GRCh37 |
| NC_000004.10:g.155892156G>A | NCBI36 |
| NG_009110.1:g.12544G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004744.5:c.*2418G>A MANE Select | NP_004735.2:n.*2418G>A |
| ENST00000336356.4:c.*2418G>A MANE Select | ENSP00000337224.3:n.*2418G>A |
| NM_001301645.1:c.*2418G>A | NP_001288574.1:n.*2418G>A |
| NM_001301645.2:c.*2418G>A | NP_001288574.1:n.*2418G>A |
| NM_004744.4:c.*2418G>A | NP_004735.2:n.*2418G>A |
| ENST00000336356.3:c.*2418G>A | ENSP00000337224.3:n.*2418G>A |
| ENST00000510733.1:n.3438G>A |