Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.40005365A= , CM000670.2:g.40005365A= | GRCh38 |
| NC_000008.10:g.39862884A= , CM000670.1:g.39862884A= | GRCh37 |
| NC_000008.9:g.39982041A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502986.4:c.706A= MANE Select | ENSP00000443432.2:p.Ile236= | |
| ENST00000502986.3:c.706A= | ENSP00000443432.2:p.Ile236= | |
| ENST00000343295.8:n.2971-8200A= | ||
| ENST00000389060.8:c.706A= | ENSP00000426447.1:p.Ile236= | |
| ENST00000418094.1:n.347-8200A= | ||
| ENST00000502986.2:c.745A= | ENSP00000443432.1:p.Ile249= | |
| NM_194294.2:c.745A= | NP_919270.2:p.Ile249= | |
| NM_194294.3:c.745A= | NP_919270.2:p.Ile249= | |
| NM_001395206.1:c.706A= | NP_001382135.1:p.Ile236= | |
| NM_194294.5:c.706A= MANE Select | NP_919270.3:p.Ile236= |