Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52750617T>A , CM000668.2:g.52750617T>A | GRCh38 |
| NC_000006.11:g.52615415T>A , CM000668.1:g.52615415T>A | GRCh37 |
| NC_000006.10:g.52723374T>A | NCBI36 |
| NG_029430.1:g.17947A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493422.3:c.629A>T MANE Select | ENSP00000420168.1:p.Glu210Val | |
| ENST00000493422.2:c.629A>T | ENSP00000420168.1:p.Glu210Val | |
| NM_000846.4:c.629A>T | NP_000837.3:p.Glu210Val | |
| XM_011514532.1:c.629A>T | XP_011512834.1:p.Glu210Val | |
| XM_011514532.3:c.629A>T | XP_011512834.1:p.Glu210Val | |
| NM_000846.5:c.629A>T MANE Select | NP_000837.3:p.Glu210Val |