Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433601C= , CM000676.2:g.23433601C= | GRCh38 |
| NC_000014.8:g.23902810C= , CM000676.1:g.23902810C= | GRCh37 |
| NC_000014.7:g.22972650C= | NCBI36 |
| NG_007884.1:g.7061G= , LRG_384:g.7061G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.132G= MANE Select | ENSP00000347507.3:p.Gln44= | |
| ENST00000355349.3:c.132G= | ENSP00000347507.3:p.Gln44= | |
| NM_000257.3:c.132G= | NP_000248.2:p.Gln44= | |
| XR_245686.3:n.238G= | ||
| XM_017021340.1:c.132G= | XP_016876829.1:p.Gln44= | |
| NM_000257.4:c.132G= MANE Select | NP_000248.2:p.Gln44= |