HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648261G>C , CM000673.2:g.69648261G>C | GRCh38 |
NC_000011.9:g.69463029G>C , CM000673.1:g.69463029G>C | GRCh37 |
NC_000011.8:g.69172210G>C | NCBI36 |
NG_007375.1:g.12157G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+119G>C MANE Select | ENSP00000227507.2:n.723+119G>C | |
ENST00000227507.2:c.723+119G>C | ENSP00000227507.2:n.723+119G>C | |
ENST00000542367.1:n.186+119G>C | ||
NM_053056.2:c.723+119G>C | NP_444284.1:n.723+119G>C | |
XM_006718653.2:c.747+119G>C | XP_006718716.1:n.747+119G>C | |
NM_053056.3:c.723+119G>C MANE Select | NP_444284.1:n.723+119G>C |