Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805844G= , CM000668.2:g.35805844G= | GRCh38 |
| NC_000006.11:g.35773621G= , CM000668.1:g.35773621G= | GRCh37 |
| NC_000006.10:g.35881599G= | NCBI36 |
| NG_012184.1:g.5551G= | |
| NG_012184.2:g.5551G= | |
| NG_012184.3:g.13639G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.174G= MANE Select | ENSP00000353346.1:p.Gln58= | |
| ENST00000651132.1:c.174G= | ENSP00000498322.1:p.Gln58= | |
| ENST00000651676.1:c.174G= | ENSP00000498699.1:p.Gln58= | |
| ENST00000651994.1:c.174G= | ENSP00000498310.1:p.Gln58= | |
| ENST00000652718.1:c.6G= | ENSP00000498866.1:p.Gln2= | |
| ENST00000360215.2:c.174G= | ENSP00000353346.1:p.Gln58= | |
| NM_182548.3:c.174G= | NP_872354.1:p.Gln58= | |
| XM_011514403.1:c.174G= | XP_011512705.1:p.Gln58= | |
| NM_182548.4:c.174G= MANE Select | NP_872354.1:p.Gln58= |