Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84431613G= , CM000664.2:g.84431613G= | GRCh38 |
| NC_000002.11:g.84658737G= , CM000664.1:g.84658737G= | GRCh37 |
| NC_000002.10:g.84512248G= | NCBI36 |
| NG_016755.1:g.32850C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.720C= MANE Select | ENSP00000377446.2:p.Leu240= | |
| ENST00000651342.1:c.*160C= | ENSP00000498471.1:n.*160C= | |
| ENST00000393868.6:c.720C= | ENSP00000377446.2:p.Leu240= | |
| ENST00000487809.1:n.467C= | ||
| ENST00000491123.5:n.566C= | ||
| NM_003849.3:c.720C= | NP_003840.2:p.Leu240= | |
| NM_003849.4:c.720C= MANE Select | NP_003840.2:p.Leu240= |