HGVS | Genome Assembly |
---|---|
NC_000002.12:g.241801868C>G , CM000664.2:g.241801868C>G | GRCh38 |
NC_000002.11:g.242741283C>G , CM000664.1:g.242741283C>G | GRCh37 |
NC_000002.10:g.242389956C>G | NCBI36 |
NG_046977.1:g.30044C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000192314.7:c.207C>G MANE Select | ENSP00000192314.6:p.Asn69Lys | |
ENST00000192314.6:c.207C>G | ENSP00000192314.6:p.Asn69Lys | |
NM_022134.2:c.207C>G | NP_071417.2:p.Asn69Lys | |
NM_022134.3:c.207C>G MANE Select | NP_071417.2:p.Asn69Lys |