Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48307284G>T , CM000675.2:g.48307284G>T | GRCh38 |
| NC_000013.10:g.48881420G>T , CM000675.1:g.48881420G>T | GRCh37 |
| NC_000013.9:g.47779421G>T | NCBI36 |
| NG_009009.1:g.8538G>T , LRG_517:g.8538G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.142G>T MANE Select | NP_000312.2:p.Glu48Ter |
| ENST00000267163.6:c.142G>T MANE Select | ENSP00000267163.4:p.Glu48Ter |
| NM_000321.2:c.142G>T , LRG_517t1:c.142G>T | NP_000312.2:p.Glu48Ter |
| ENST00000267163.4:c.142G>T | ENSP00000267163.4:p.Glu48Ter |
| ENST00000467505.5:c.137+3235G>T | ENSP00000434702.1:n.137+3235G>T |
| ENST00000525036.1:n.304G>T | |
| ENST00000646097.1:c.142G>T | ENSP00000496556.1:p.Glu48Ter |
| ENST00000650461.1:c.142G>T | ENSP00000497193.1:p.Glu48Ter |