Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7927239G>A , CM000681.2:g.7927239G>A | GRCh38 |
| NC_000019.9:g.7992124G>A , CM000681.1:g.7992124G>A | GRCh37 |
| NC_000019.8:g.7898124G>A | NCBI36 |
| NG_051180.1:g.21585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.1307C>T MANE Select | ENSP00000270538.2:p.Ala436Val | |
| ENST00000270538.7:c.1307C>T | ENSP00000270538.2:p.Ala436Val | |
| ENST00000595565.5:c.350C>T | ENSP00000469273.1:p.Ala117Val | |
| ENST00000595831.5:c.1294C>T | ||
| ENST00000598968.5:n.472C>T | ||
| ENST00000599650.1:n.731C>T | ||
| ENST00000599939.1:n.1706C>T | ||
| NM_006351.3:c.1307C>T | NP_006342.2:p.Ala436Val | |
| NM_006351.4:c.1307C>T MANE Select | NP_006342.2:p.Ala436Val |