Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87713181C= , CM000672.2:g.87713181C= | GRCh38 |
| NC_000010.10:g.89472938C= , CM000672.1:g.89472938C= | GRCh37 |
| NC_000010.9:g.89462918C= | NCBI36 |
| NG_012150.1:g.58463C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.252C= MANE Select | ENSP00000406157.1:p.Gly84= | |
| ENST00000361175.8:c.252C= | ENSP00000354436.4:p.Gly84= | |
| ENST00000456849.1:c.252C= | ENSP00000406157.1:p.Gly84= | |
| ENST00000465996.5:n.274C= | ||
| ENST00000482258.1:n.295C= | ||
| NM_001015880.1:c.252C= | NP_001015880.1:p.Gly84= | |
| NM_004670.3:c.252C= | NP_004661.2:p.Gly84= | |
| NM_001015880.2:c.252C= MANE Select | NP_001015880.1:p.Gly84= | |
| NM_004670.4:c.252C= | NP_004661.2:p.Gly84= |