Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485158C= , CM000668.2:g.143485158C= | GRCh38 |
| NC_000006.11:g.143806295C= , CM000668.1:g.143806295C= | GRCh37 |
| NC_000006.10:g.143847988C= | NCBI36 |
| NG_008459.1:g.39378C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.948C= MANE Select | ENSP00000356563.4:p.Ser316= | |
| ENST00000367591.4:c.948C= | ENSP00000356563.4:p.Ser316= | |
| ENST00000585848.1:n.87C= | ||
| NM_003630.2:c.948C= | NP_003621.1:p.Ser316= | |
| NM_003630.3:c.948C= MANE Select | NP_003621.1:p.Ser316= |