Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206170G= , CM000673.2:g.70206170G= | GRCh38 |
| NC_000011.9:g.70052276G= , CM000673.1:g.70052276G= | GRCh37 |
| NC_000011.8:g.69729924G= | NCBI36 |
| NG_027966.1:g.8008G= , LRG_228:g.8008G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.324G= MANE Select | ENSP00000301838.5:p.Val108= | |
| ENST00000301838.4:c.324G= | ENSP00000301838.4:p.Val108= | |
| NM_003824.3:c.324G= , LRG_228t1:c.324G= | NP_003815.1:p.Val108= | |
| NM_003824.4:c.324G= MANE Select | NP_003815.1:p.Val108= |