Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21742071A>G , CM000669.2:g.21742071A>G | GRCh38 |
| NC_000007.13:g.21781689A>G , CM000669.1:g.21781689A>G | GRCh37 |
| NC_000007.12:g.21748214A>G | NCBI36 |
| NG_012886.2:g.203857A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.8059A>G MANE Select | NP_001264044.1:p.Ile2687Val |
| ENST00000409508.8:c.8059A>G MANE Select | ENSP00000475939.1:p.Ile2687Val |
| NM_001277115.1:c.8059A>G | NP_001264044.1:p.Ile2687Val |
| ENST00000328843.10:c.8080A>G | ENSP00000330671.7:p.Ile2694Val |
| ENST00000409508.7:c.8059A>G | ENSP00000475939.1:p.Ile2687Val |
| ENST00000605912.1:c.474+2398A>G | ENSP00000476068.1:n.474+2398A>G |
| ENST00000620169.4:c.8080A>G | ENSP00000481693.1:p.Ile2694Val |