Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47375247G>T , CM000664.2:g.47375247G>T | GRCh38 |
| NC_000002.11:g.47602386G>T , CM000664.1:g.47602386G>T | GRCh37 |
| NC_000002.10:g.47455890G>T | NCBI36 |
| NG_012352.2:g.35085G>T , LRG_215:g.35085G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.439G>T MANE Select | NP_002345.2:p.Glu147Ter |
| ENST00000263735.9:c.439G>T MANE Select | ENSP00000263735.4:p.Glu147Ter |
| NM_002354.2:c.439G>T , LRG_215t1:c.439G>T | NP_002345.2:p.Glu147Ter |
| ENST00000263735.8:c.439G>T | ENSP00000263735.4:p.Glu147Ter |
| ENST00000405271.5:c.523G>T | ENSP00000385476.1:p.Glu175Ter |
| ENST00000456133.5:c.523G>T | ENSP00000410675.1:p.Glu175Ter |
| ENST00000474691.1:n.707G>T | |
| ENST00000490733.1:n.288G>T |