Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379404C= , CM000685.2:g.154379404C= | GRCh38 |
| NC_000023.10:g.153607764C= , CM000685.1:g.153607764C= | GRCh37 |
| NC_000023.9:g.153260958C= | NCBI36 |
| NG_008677.1:g.9969C= , LRG_745:g.9969C= | |
| NG_011506.1:g.243G= | |
| NG_011506.2:g.235G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369842.9:c.-81C= MANE Select | ENSP00000358857.4:n.-81C= | |
| ENST00000369835.3:c.-81C= | ENSP00000358850.3:n.-81C= | |
| ENST00000369842.8:c.-81C= | ENSP00000358857.4:n.-81C= | |
| ENST00000428228.5:c.-81C= | ENSP00000401081.1:n.-81C= | |
| ENST00000485261.1:n.1C= | ||
| ENST00000486738.5:n.64C= | ||
| NM_000117.2:c.-81C= , LRG_745t1:c.-81C= | NP_000108.1:n.-81C= | |
| XM_024452349.1:c.-289C= | XP_024308117.1:n.-289C= | |
| NM_000117.3:c.-81C= MANE Select | NP_000108.1:n.-81C= |