Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129977198A>G , CM000665.2:g.129977198A>G | GRCh38 |
| NC_000003.11:g.129696041A>G , CM000665.1:g.129696041A>G | GRCh37 |
| NC_000003.10:g.131178731A>G | NCBI36 |
| NG_027816.1:g.7928A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007117.5:c.711A>G MANE Select | NP_009048.1:p.Arg237= |
| ENST00000302649.4:c.711A>G MANE Select | ENSP00000303452.3:p.Arg237= |
| NM_007117.4:c.711A>G | NP_009048.1:p.Arg237= |
| ENST00000302649.3:c.711A>G | ENSP00000303452.3:p.Arg237= |
| ENST00000507066.1:c.699A>G | ENSP00000426522.1:p.Arg233= |