Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18197483T>G , CM000681.2:g.18197483T>G | GRCh38 |
| NC_000019.9:g.18308293T>G , CM000681.1:g.18308293T>G | GRCh37 |
| NC_000019.8:g.18169293T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222256.9:c.650A>C MANE Select | ENSP00000222256.3:p.Asp217Ala | |
| ENST00000222256.8:c.650A>C | ENSP00000222256.3:p.Asp217Ala | |
| ENST00000464076.3:c.365A>C | ENSP00000474603.1:p.Asp122Ala | |
| NM_002866.4:c.650A>C | NP_002857.1:p.Asp217Ala | |
| XM_011528164.1:c.650A>C | XP_011526466.1:p.Asp217Ala | |
| XM_011528164.2:c.650A>C | XP_011526466.1:p.Asp217Ala | |
| NM_002866.5:c.650A>C MANE Select | NP_002857.1:p.Asp217Ala |