HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173293C>G , CM000678.2:g.173293C>G | GRCh38 |
NC_000016.9:g.223292C>G , CM000678.1:g.223292C>G | GRCh37 |
NC_000016.8:g.163292C>G | NCBI36 |
NG_000006.1:g.34156C>G | |
NG_059186.1:g.1643C>G | |
NG_059271.1:g.5447C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.264C>G MANE Select | ENSP00000251595.6:p.His88Gln | |
ENST00000251595.10:c.264C>G | ENSP00000251595.6:p.His88Gln | |
ENST00000397806.1:c.168C>G | ENSP00000380908.1:p.His56Gln | |
ENST00000482565.1:n.400C>G | ||
ENST00000484216.1:n.233C>G | ||
NM_000517.4:c.264C>G | NP_000508.1:p.His88Gln | |
NM_000517.6:c.264C>G MANE Select | NP_000508.1:p.His88Gln |