Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143052545A>G , CM000669.2:g.143052545A>G | GRCh38 |
| NC_000007.13:g.142749642A>G , CM000669.1:g.142749642A>G | GRCh37 |
| NC_000007.12:g.142459764A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001667.1:c.205A>G MANE Select | NP_001001667.1:p.Ile69Val |
| ENST00000418316.2:c.205A>G MANE Select | ENSP00000396085.1:p.Ile69Val |
| ENST00000418316.1:c.205A>G | ENSP00000396085.1:p.Ile69Val |