Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485185A= , CM000668.2:g.143485185A= | GRCh38 |
| NC_000006.11:g.143806322A= , CM000668.1:g.143806322A= | GRCh37 |
| NC_000006.10:g.143848015A= | NCBI36 |
| NG_008459.1:g.39405A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.975A= MANE Select | ENSP00000356563.4:p.Ile325= | |
| ENST00000367591.4:c.975A= | ENSP00000356563.4:p.Ile325= | |
| ENST00000585848.1:n.114A= | ||
| NM_003630.2:c.975A= | NP_003621.1:p.Ile325= | |
| NM_003630.3:c.975A= MANE Select | NP_003621.1:p.Ile325= |