Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223963907T>A , CM000664.2:g.223963907T>A | GRCh38 |
| NC_000002.11:g.224828624T>A , CM000664.1:g.224828624T>A | GRCh37 |
| NC_000002.10:g.224536868T>A | NCBI36 |
| NG_050679.1:g.18018T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258383.4:c.800T>A MANE Select | ENSP00000258383.3:p.Leu267Ter | |
| ENST00000258383.3:c.800T>A | ENSP00000258383.3:p.Leu267Ter | |
| NM_022915.3:c.800T>A | NP_075066.1:p.Leu267Ter | |
| XM_011511668.1:c.758T>A | XP_011509970.1:p.Leu253Ter | |
| XM_011511668.2:c.758T>A | XP_011509970.1:p.Leu253Ter | |
| NM_022915.4:c.800T>A | NP_075066.1:p.Leu267Ter | |
| NM_022915.5:c.800T>A MANE Select | NP_075066.1:p.Leu267Ter |