Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144319A= , CM000670.2:g.38144319A= | GRCh38 |
| NC_000008.10:g.38001837A= , CM000670.1:g.38001837A= | GRCh37 |
| NC_000008.9:g.38120994A= | NCBI36 |
| NG_011827.1:g.11764T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.812T= MANE Select | ENSP00000276449.3:p.Leu271= | |
| ENST00000276449.8:c.812T= | ENSP00000276449.3:p.Leu271= | |
| ENST00000520114.1:n.2781T= | ||
| ENST00000522050.1:c.654T= | ||
| NM_000349.2:c.812T= | NP_000340.2:p.Leu271= | |
| XM_006716392.1:c.718T= | XP_006716455.1:p.Cys240= | |
| NM_000349.3:c.812T= MANE Select | NP_000340.2:p.Leu271= |