Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.55062763C>T , CM000676.2:g.55062763C>T | GRCh38 |
| NC_000014.8:g.55529481C>T , CM000676.1:g.55529481C>T | GRCh37 |
| NC_000014.7:g.54599234C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144578.4:c.164C>T MANE Select | NP_653179.1:p.Pro55Leu |
| ENST00000395468.9:c.164C>T MANE Select | ENSP00000378851.3:p.Pro55Leu |
| NM_144578.3:c.164C>T | NP_653179.1:p.Pro55Leu |
| ENST00000395468.8:c.164C>T | ENSP00000378851.3:p.Pro55Leu |
| ENST00000554364.1:n.303C>T | |
| ENST00000622254.1:c.164C>T | ENSP00000481882.1:p.Pro55Leu |
| XM_011537362.1:c.170C>T | XP_011535664.1:p.Pro57Leu |
| XM_011537362.2:c.203C>T | XP_011535664.2:p.Pro68Leu |
| XM_017021789.2:c.164C>T | XP_016877278.1:p.Pro55Leu |