Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56930431C>T , CM000674.2:g.56930431C>T | GRCh38 |
| NC_000012.11:g.57324215C>T , CM000674.1:g.57324215C>T | GRCh37 |
| NC_000012.10:g.55610482C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_148897.3:c.355G>A MANE Select | NP_683695.1:p.Glu119Lys |
| ENST00000293502.2:c.355G>A MANE Select | ENSP00000293502.1:p.Glu119Lys |
| NM_148897.2:c.355G>A | NP_683695.1:p.Glu119Lys |
| ENST00000293502.1:c.355G>A | ENSP00000293502.1:p.Glu119Lys |