Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48342688T>A , CM000675.2:g.48342688T>A | GRCh38 |
| NC_000013.10:g.48916824T>A , CM000675.1:g.48916824T>A | GRCh37 |
| NC_000013.9:g.47814825T>A | NCBI36 |
| NG_009009.1:g.43942T>A , LRG_517:g.43942T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.354T>A MANE Select | NP_000312.2:p.Thr118= |
| ENST00000267163.6:c.354T>A MANE Select | ENSP00000267163.4:p.Thr118= |
| NM_000321.2:c.354T>A , LRG_517t1:c.354T>A | NP_000312.2:p.Thr118= |
| ENST00000267163.4:c.354T>A | ENSP00000267163.4:p.Thr118= |
| ENST00000467505.5:c.138-17329T>A | ENSP00000434702.1:n.138-17329T>A |
| ENST00000525036.1:n.516T>A | |
| ENST00000650461.1:c.354T>A | ENSP00000497193.1:p.Thr118= |
| XM_011535171.1:c.93T>A | XP_011533473.1:p.Thr31= |
| XM_011535171.2:c.93T>A | XP_011533473.1:p.Thr31= |