Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.7727735A>G , CM000672.2:g.7727735A>G | GRCh38 |
| NC_000010.10:g.7769698A>G , CM000672.1:g.7769698A>G | GRCh37 |
| NC_000010.9:g.7809704A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002216.3:c.1186A>G MANE Select | NP_002207.2:p.Ile396Val |
| ENST00000358415.9:c.1186A>G MANE Select | ENSP00000351190.4:p.Ile396Val |
| NM_002216.2:c.1186A>G | NP_002207.2:p.Ile396Val |
| ENST00000358415.8:c.1186A>G | ENSP00000351190.4:p.Ile396Val |
| ENST00000379587.4:c.1153A>G | ENSP00000368906.3:p.Ile385Val |
| ENST00000613369.4:c.1183A>G | ENSP00000477794.1:p.Ile395Val |