Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586527G= , CM000673.2:g.67586527G= | GRCh38 |
| NC_000011.9:g.67353998G= , CM000673.1:g.67353998G= | GRCh37 |
| NC_000011.8:g.67110574G= | NCBI36 |
| NG_012075.1:g.7933G= , LRG_723:g.7933G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.475G= | ENSP00000381604.1:p.Ala159= | |
| ENST00000398606.10:c.583G= MANE Select | ENSP00000381607.3:p.Ala195= | |
| ENST00000398603.5:c.475G= | ENSP00000381604.1:p.Ala159= | |
| ENST00000398606.7:c.583G= | ENSP00000381607.3:p.Ala195= | |
| ENST00000467591.1:n.694G= | ||
| ENST00000494593.1:n.1555G= | ||
| ENST00000498765.5:c.646G= | ||
| NM_000852.3:c.583G= , LRG_723t1:c.583G= | NP_000843.1:p.Ala195= | |
| NM_000852.4:c.583G= MANE Select | NP_000843.1:p.Ala195= |