HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648194C>T , CM000673.2:g.69648194C>T | GRCh38 |
NC_000011.9:g.69462962C>T , CM000673.1:g.69462962C>T | GRCh37 |
NC_000011.8:g.69172143C>T | NCBI36 |
NG_007375.1:g.12090C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+52C>T MANE Select | ENSP00000227507.2:n.723+52C>T | |
ENST00000227507.2:c.723+52C>T | ENSP00000227507.2:n.723+52C>T | |
ENST00000536559.1:c.*195C>T | ENSP00000438482.1:n.*195C>T | |
ENST00000542367.1:n.186+52C>T | ||
NM_053056.2:c.723+52C>T | NP_444284.1:n.723+52C>T | |
XM_006718653.2:c.747+52C>T | XP_006718716.1:n.747+52C>T | |
NM_053056.3:c.723+52C>T MANE Select | NP_444284.1:n.723+52C>T |