HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56968865C>G , CM000678.2:g.56968865C>G | GRCh38 |
NC_000016.9:g.57002777C>G , CM000678.1:g.57002777C>G | GRCh37 |
NC_000016.8:g.55560278C>G | NCBI36 |
NG_008952.1:g.11943C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.234-521C>G MANE Select | ENSP00000200676.3:n.234-521C>G | |
ENST00000200676.7:c.234-521C>G | ENSP00000200676.3:n.234-521C>G | |
ENST00000379780.6:c.234-521C>G | ENSP00000369106.2:n.234-521C>G | |
ENST00000566128.1:c.39-521C>G | ENSP00000456276.1:n.39-521C>G | |
ENST00000569082.1:n.232-521C>G | ||
NM_000078.2:c.234-521C>G | NP_000069.2:n.234-521C>G | |
NM_001286085.1:c.234-521C>G | NP_001273014.1:n.234-521C>G | |
XM_006721124.2:c.234-521C>G | XP_006721187.1:n.234-521C>G | |
XM_006721124.3:c.234-521C>G | XP_006721187.1:n.234-521C>G | |
NM_000078.3:c.234-521C>G MANE Select | NP_000069.2:n.234-521C>G | |
NM_001286085.2:c.234-521C>G | NP_001273014.1:n.234-521C>G |