Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598608C>A , CM000680.2:g.31598608C>A | GRCh38 |
| NC_000018.9:g.29178571C>A , CM000680.1:g.29178571C>A | GRCh37 |
| NC_000018.8:g.27432569C>A | NCBI36 |
| NG_009490.1:g.11842C>A , LRG_416:g.11842C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.4:c.377C>A MANE Select | NP_000362.1:p.Thr126Asn |
| ENST00000237014.8:c.377C>A MANE Select | ENSP00000237014.4:p.Thr126Asn |
| NM_000371.3:c.377C>A , LRG_416t1:c.377C>A | NP_000362.1:p.Thr126Asn |
| ENST00000237014.7:c.377C>A | ENSP00000237014.3:p.Thr126Asn |
| ENST00000610404.4:c.491C>A | ENSP00000477599.1:p.Thr164Asn |
| ENST00000610404.5:c.281C>A | ENSP00000477599.2:p.Thr94Asn |
| ENST00000613781.1:c.375+2C>A | ENSP00000479174.1:n.375+2C>A |
| ENST00000649620.1:c.377C>A | ENSP00000497927.1:p.Thr126Asn |