Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.11399558A>T , CM000666.2:g.11399558A>T | GRCh38 |
| NC_000004.11:g.11401182A>T , CM000666.1:g.11401182A>T | GRCh37 |
| NC_000004.10:g.11010280A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005114.4:c.448T>A MANE Select | NP_005105.1:p.Ser150Thr |
| ENST00000002596.6:c.448T>A MANE Select | ENSP00000002596.5:p.Ser150Thr |
| NM_005114.2:c.448T>A | NP_005105.1:p.Ser150Thr |
| NM_005114.3:c.448T>A | NP_005105.1:p.Ser150Thr |
| ENST00000002596.5:c.448T>A | ENSP00000002596.5:p.Ser150Thr |
| XM_011513913.1:c.448T>A | XP_011512215.1:p.Ser150Thr |
| XM_011513913.3:c.448T>A | XP_011512215.1:p.Ser150Thr |