Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88804608A>G , CM000678.2:g.88804608A>G | GRCh38 |
| NC_000016.9:g.88871016A>G , CM000678.1:g.88871016A>G | GRCh37 |
| NC_000016.8:g.87398517A>G | NCBI36 |
| NG_028266.1:g.5831A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301019.9:c.292A>G MANE Select | ENSP00000301019.4:p.Ile98Val | |
| ENST00000301019.8:c.292A>G | ENSP00000301019.4:p.Ile98Val | |
| NM_030928.3:c.292A>G | NP_112190.2:p.Ile98Val | |
| NM_030928.4:c.292A>G MANE Select | NP_112190.2:p.Ile98Val |