HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648146A>G , CM000673.2:g.69648146A>G | GRCh38 |
NC_000011.9:g.69462914A>G , CM000673.1:g.69462914A>G | GRCh37 |
NC_000011.8:g.69172095A>G | NCBI36 |
NG_007375.1:g.12042A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227507.3:c.723+4A>G MANE Select | ENSP00000227507.2:n.723+4A>G | |
ENST00000227507.2:c.723+4A>G | ENSP00000227507.2:n.723+4A>G | |
ENST00000536559.1:c.*147A>G | ENSP00000438482.1:n.*147A>G | |
ENST00000542367.1:n.186+4A>G | ||
NM_053056.2:c.723+4A>G | NP_444284.1:n.723+4A>G | |
XM_006718653.2:c.747+4A>G | XP_006718716.1:n.747+4A>G | |
NM_053056.3:c.723+4A>G MANE Select | NP_444284.1:n.723+4A>G |