Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312500T>A , CM000676.2:g.21312500T>A | GRCh38 |
| NC_000014.8:g.21780659T>A , CM000676.1:g.21780659T>A | GRCh37 |
| NC_000014.7:g.20850499T>A | NCBI36 |
| NG_008933.1:g.29524T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020366.4:c.1145T>A MANE Select | NP_065099.3:p.Leu382Ter |
| ENST00000400017.7:c.1145T>A MANE Select | ENSP00000382895.2:p.Leu382Ter |
| NM_020366.3:c.1145T>A | NP_065099.3:p.Leu382Ter |
| ENST00000400017.6:c.1145T>A | ENSP00000382895.2:p.Leu382Ter |
| ENST00000556336.5:c.1064T>A | ENSP00000450445.1:p.Leu355Ter |
| ENST00000557771.5:c.1064T>A | ENSP00000451219.1:p.Leu355Ter |
| XM_011536983.1:c.1112T>A | XP_011535285.1:p.Leu371Ter |