Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379327C= , CM000685.2:g.154379327C= | GRCh38 |
| NC_000023.10:g.153607687C= , CM000685.1:g.153607687C= | GRCh37 |
| NC_000023.9:g.153260881C= | NCBI36 |
| NG_008677.1:g.9892C= , LRG_745:g.9892C= | |
| NG_011506.1:g.320G= | |
| NG_011506.2:g.312G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.9:c.-158C= MANE Select | ENSP00000358857.4:n.-158C= | |
| ENST00000369835.3:c.-158C= | ENSP00000358850.3:n.-158C= | |
| ENST00000369842.8:c.-158C= | ENSP00000358857.4:n.-158C= | |
| NM_000117.2:c.-158C= , LRG_745t1:c.-158C= | NP_000108.1:n.-158C= | |
| XM_024452349.1:c.-366C= | XP_024308117.1:n.-366C= | |
| NM_000117.3:c.-158C= MANE Select | NP_000108.1:n.-158C= |