Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379315G= , CM000685.2:g.154379315G= | GRCh38 |
| NC_000023.10:g.153607675G= , CM000685.1:g.153607675G= | GRCh37 |
| NC_000023.9:g.153260869G= | NCBI36 |
| NG_008677.1:g.9880G= , LRG_745:g.9880G= | |
| NG_011506.1:g.332C= | |
| NG_011506.2:g.324C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.9:c.-170G= MANE Select | ENSP00000358857.4:n.-170G= | |
| ENST00000369835.3:c.-170G= | ENSP00000358850.3:n.-170G= | |
| ENST00000369842.8:c.-170G= | ENSP00000358857.4:n.-170G= | |
| NM_000117.2:c.-170G= , LRG_745t1:c.-170G= | NP_000108.1:n.-170G= | |
| XM_024452349.1:c.-378G= | XP_024308117.1:n.-378G= | |
| NM_000117.3:c.-170G= MANE Select | NP_000108.1:n.-170G= |