Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23687006T>C , CM000677.2:g.23687006T>C | GRCh38 |
| NC_000015.9:g.23932153T>C , CM000677.1:g.23932153T>C | GRCh37 |
| NC_000015.8:g.21483246T>C | NCBI36 |
| NG_009380.1:g.5298A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649030.2:c.212A>G MANE Select | ENSP00000497916.1:p.Gln71Arg | |
| ENST00000331837.5:c.212A>G | ENSP00000332643.4:p.Gln71Arg | |
| NM_002487.2:c.212A>G | NP_002478.1:p.Gln71Arg | |
| NM_002487.3:c.212A>G MANE Select | NP_002478.1:p.Gln71Arg |