Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52750617T>G , CM000668.2:g.52750617T>G | GRCh38 |
| NC_000006.11:g.52615415T>G , CM000668.1:g.52615415T>G | GRCh37 |
| NC_000006.10:g.52723374T>G | NCBI36 |
| NG_029430.1:g.17947A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000846.5:c.629A>C MANE Select | NP_000837.3:p.Glu210Ala |
| ENST00000493422.3:c.629A>C MANE Select | ENSP00000420168.1:p.Glu210Ala |
| NM_000846.4:c.629A>C | NP_000837.3:p.Glu210Ala |
| ENST00000493422.2:c.629A>C | ENSP00000420168.1:p.Glu210Ala |
| XM_011514532.1:c.629A>C | XP_011512834.1:p.Glu210Ala |
| XM_011514532.3:c.629A>C | XP_011512834.1:p.Glu210Ala |