Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630276T>A , CM000674.2:g.123630276T>A | GRCh38 |
| NC_000012.11:g.124114823T>A , CM000674.1:g.124114823T>A | GRCh37 |
| NC_000012.10:g.122680776T>A | NCBI36 |
| NG_015862.1:g.8501A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.262A>T MANE Select | ENSP00000416250.2:p.Lys88Ter | |
| ENST00000424014.6:c.262A>T | ENSP00000416250.2:p.Lys88Ter | |
| ENST00000452159.6:n.393A>T | ||
| ENST00000534960.5:c.309A>T | ||
| ENST00000537073.1:c.262A>T | ENSP00000444183.1:p.Lys88Ter | |
| ENST00000539951.5:c.223A>T | ENSP00000438060.1:p.Lys75Ter | |
| ENST00000543940.1:n.381A>T | ||
| NM_001414.3:c.262A>T | NP_001405.1:p.Lys88Ter | |
| NM_001414.4:c.262A>T MANE Select | NP_001405.1:p.Lys88Ter |