ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92606276T>A , CM000672.2:g.92606276T>A | GRCh38 |
| NC_000010.10:g.94366033T>A , CM000672.1:g.94366033T>A | GRCh37 |
| NC_000010.9:g.94356013T>A | NCBI36 |
| NG_032580.1:g.18209T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.89T>A MANE Select | ENSP00000260731.3:p.Leu30Ter | |
| ENST00000676621.1:c.89T>A | ENSP00000503639.1:p.Leu30Ter | |
| ENST00000676647.1:c.-119T>A | ENSP00000503394.1:n.-119T>A | |
| ENST00000676757.1:c.-119T>A | ENSP00000504289.1:n.-119T>A | |
| ENST00000677720.1:c.89T>A | ENSP00000504840.1:p.Leu30Ter | |
| ENST00000260731.4:c.89T>A | ENSP00000260731.3:p.Leu30Ter | |
| NM_004523.3:c.89T>A | NP_004514.2:p.Leu30Ter | |
| NM_004523.4:c.89T>A MANE Select | NP_004514.2:p.Leu30Ter |