Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48379616T>A , CM000675.2:g.48379616T>A | GRCh38 |
| NC_000013.10:g.48953752T>A , CM000675.1:g.48953752T>A | GRCh37 |
| NC_000013.9:g.47851753T>A | NCBI36 |
| NG_009009.1:g.80870T>A , LRG_517:g.80870T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1355T>A MANE Select | NP_000312.2:p.Leu452Ter |
| ENST00000267163.6:c.1355T>A MANE Select | ENSP00000267163.4:p.Leu452Ter |
| NM_000321.2:c.1355T>A , LRG_517t1:c.1355T>A | NP_000312.2:p.Leu452Ter |
| ENST00000267163.4:c.1355T>A | ENSP00000267163.4:p.Leu452Ter |
| ENST00000650461.1:c.1355T>A | ENSP00000497193.1:p.Leu452Ter |
| XM_011535171.1:c.1094T>A | XP_011533473.1:p.Leu365Ter |
| XM_011535171.2:c.1094T>A | XP_011533473.1:p.Leu365Ter |
| XR_002957522.1:n.40+219A>T |