HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648229A>G , CM000673.2:g.69648229A>G | GRCh38 |
NC_000011.9:g.69462997A>G , CM000673.1:g.69462997A>G | GRCh37 |
NC_000011.8:g.69172178A>G | NCBI36 |
NG_007375.1:g.12125A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+87A>G MANE Select | ENSP00000227507.2:n.723+87A>G | |
ENST00000227507.2:c.723+87A>G | ENSP00000227507.2:n.723+87A>G | |
ENST00000536559.1:c.*230A>G | ENSP00000438482.1:n.*230A>G | |
ENST00000542367.1:n.186+87A>G | ||
NM_053056.2:c.723+87A>G | NP_444284.1:n.723+87A>G | |
XM_006718653.2:c.747+87A>G | XP_006718716.1:n.747+87A>G | |
NM_053056.3:c.723+87A>G MANE Select | NP_444284.1:n.723+87A>G |