Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44112254G>C , CM000669.2:g.44112254G>C | GRCh38 |
| NC_000007.13:g.44151853G>C , CM000669.1:g.44151853G>C | GRCh37 |
| NC_000007.12:g.44118378G>C | NCBI36 |
| NG_056775.1:g.12935G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223357.8:c.2150G>C MANE Select | ENSP00000223357.3:p.Trp717Ser | |
| ENST00000223357.7:c.2150G>C | ENSP00000223357.3:p.Trp717Ser | |
| ENST00000413907.1:c.547G>C | ||
| ENST00000431035.1:c.657G>C | ENSP00000416568.1:n.657G>C | |
| ENST00000450684.2:c.875G>C | ENSP00000398878.2:p.Trp292Ser | |
| NM_001129.4:c.2150G>C | NP_001120.3:p.Trp717Ser | |
| XM_011515162.1:c.2072G>C | XP_011513464.1:p.Trp691Ser | |
| NM_001129.5:c.2150G>C MANE Select | NP_001120.3:p.Trp717Ser |