Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043406C= , CM000663.2:g.94043406C= | GRCh38 |
| NC_000001.10:g.94508962C= , CM000663.1:g.94508962C= | GRCh37 |
| NC_000001.9:g.94281550C= | NCBI36 |
| NG_009073.1:g.82744G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3120G= MANE Select | ENSP00000359245.3:p.Leu1040= | |
| ENST00000370225.3:c.3120G= | ENSP00000359245.3:p.Leu1040= | |
| ENST00000536513.5:c.-64-3317G= | ENSP00000439707.2:n.-64-3317G= | |
| NM_000350.2:c.3120G= | NP_000341.2:p.Leu1040= | |
| NM_000350.3:c.3120G= MANE Select | NP_000341.2:p.Leu1040= |