Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379314C= , CM000685.2:g.154379314C= | GRCh38 |
| NC_000023.10:g.153607674C= , CM000685.1:g.153607674C= | GRCh37 |
| NC_000023.9:g.153260868C= | NCBI36 |
| NG_008677.1:g.9879C= , LRG_745:g.9879C= | |
| NG_011506.1:g.333G= | |
| NG_011506.2:g.325G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.9:c.-171C= MANE Select | ENSP00000358857.4:n.-171C= | |
| ENST00000369835.3:c.-171C= | ENSP00000358850.3:n.-171C= | |
| ENST00000369842.8:c.-171C= | ENSP00000358857.4:n.-171C= | |
| NM_000117.2:c.-171C= , LRG_745t1:c.-171C= | NP_000108.1:n.-171C= | |
| XM_024452349.1:c.-379C= | XP_024308117.1:n.-379C= | |
| NM_000117.3:c.-171C= MANE Select | NP_000108.1:n.-171C= |