HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69642525C>T , CM000673.2:g.69642525C>T | GRCh38 |
NC_000011.9:g.69457293C>T , CM000673.1:g.69457293C>T | GRCh37 |
NC_000011.8:g.69166474C>T | NCBI36 |
NG_007375.1:g.6421C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.199-506C>T MANE Select | ENSP00000227507.2:n.199-506C>T | |
ENST00000227507.2:c.199-506C>T | ENSP00000227507.2:n.199-506C>T | |
ENST00000535993.1:n.282-506C>T | ||
ENST00000536559.1:c.198+1014C>T | ENSP00000438482.1:n.198+1014C>T | |
ENST00000539241.1:n.348-506C>T | ||
NM_053056.2:c.199-506C>T | NP_444284.1:n.199-506C>T | |
XM_006718653.2:c.222+191C>T | XP_006718716.1:n.222+191C>T | |
NM_053056.3:c.199-506C>T MANE Select | NP_444284.1:n.199-506C>T |