Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536407G= , CM000679.2:g.42536407G= | GRCh38 |
| NC_000017.10:g.40688425G= , CM000679.1:g.40688425G= | GRCh37 |
| NC_000017.9:g.37941951G= | NCBI36 |
| NG_011552.1:g.5475G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.135G= MANE Select | ENSP00000225927.1:p.Ala45= | |
| ENST00000225927.6:c.135G= | ENSP00000225927.1:p.Ala45= | |
| NM_000263.3:c.135G= | NP_000254.2:p.Ala45= | |
| XM_024450771.1:c.135G= | XP_024306539.1:p.Ala45= | |
| NM_000263.4:c.135G= MANE Select | NP_000254.2:p.Ala45= |