Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485164C>T , CM000668.2:g.143485164C>T | GRCh38 |
| NC_000006.11:g.143806301C>T , CM000668.1:g.143806301C>T | GRCh37 |
| NC_000006.10:g.143847994C>T | NCBI36 |
| NG_008459.1:g.39384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.954C>T MANE Select | ENSP00000356563.4:p.Val318= | |
| ENST00000367591.4:c.954C>T | ENSP00000356563.4:p.Val318= | |
| ENST00000585848.1:n.93C>T | ||
| NM_003630.2:c.954C>T | NP_003621.1:p.Val318= | |
| NM_003630.3:c.954C>T MANE Select | NP_003621.1:p.Val318= |