Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47386731T>A , CM000664.2:g.47386731T>A | GRCh38 |
| NC_000002.11:g.47613870T>A , CM000664.1:g.47613870T>A | GRCh37 |
| NC_000002.10:g.47467374T>A | NCBI36 |
| NG_012352.2:g.46569T>A , LRG_215:g.46569T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.*118T>A MANE Select | ENSP00000263735.4:n.*118T>A | |
| ENST00000263735.8:c.*118T>A | ENSP00000263735.4:n.*118T>A | |
| ENST00000405271.5:c.*118T>A | ENSP00000385476.1:n.*118T>A | |
| ENST00000456133.5:c.*118T>A | ENSP00000410675.1:n.*118T>A | |
| NM_002354.2:c.*118T>A , LRG_215t1:c.*118T>A | NP_002345.2:n.*118T>A | |
| NM_002354.3:c.*118T>A MANE Select | NP_002345.2:n.*118T>A |