Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47374011G>T , CM000664.2:g.47374011G>T | GRCh38 |
| NC_000002.11:g.47601150G>T , CM000664.1:g.47601150G>T | GRCh37 |
| NC_000002.10:g.47454654G>T | NCBI36 |
| NG_012352.2:g.33849G>T , LRG_215:g.33849G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.388G>T MANE Select | NP_002345.2:p.Asp130Tyr |
| ENST00000263735.9:c.388G>T MANE Select | ENSP00000263735.4:p.Asp130Tyr |
| NM_002354.2:c.388G>T , LRG_215t1:c.388G>T | NP_002345.2:p.Asp130Tyr |
| ENST00000263735.8:c.388G>T | ENSP00000263735.4:p.Asp130Tyr |
| ENST00000405271.5:c.472G>T | ENSP00000385476.1:p.Asp158Tyr |
| ENST00000456133.5:c.472G>T | ENSP00000410675.1:p.Asp158Tyr |
| ENST00000474691.1:n.656G>T | |
| ENST00000490733.1:n.237G>T |