Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218713C= , CM000676.2:g.93218713C= | GRCh38 |
| NC_000014.8:g.93685059C= , CM000676.1:g.93685059C= | GRCh37 |
| NC_000014.7:g.92754812C= | NCBI36 |
| NG_051089.1:g.16658C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.788C= MANE Select | ENSP00000013070.6:p.Ser263= | |
| ENST00000013070.10:c.788C= | ENSP00000013070.6:p.Ser263= | |
| ENST00000416753.5:c.560C= | ENSP00000391706.2:p.Ser187= | |
| ENST00000553674.1:c.*489C= | ENSP00000450470.1:n.*489C= | |
| ENST00000553857.5:c.378+3432C= | ||
| ENST00000555329.1:c.33C= | ||
| NM_175748.3:c.788C= | NP_786924.2:p.Ser263= | |
| NR_038150.1:n.890C= | ||
| NM_175748.4:c.788C= MANE Select | NP_786924.2:p.Ser263= | |
| NR_038150.2:n.690C= |