HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648182T>C , CM000673.2:g.69648182T>C | GRCh38 |
NC_000011.9:g.69462950T>C , CM000673.1:g.69462950T>C | GRCh37 |
NC_000011.8:g.69172131T>C | NCBI36 |
NG_007375.1:g.12078T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.723+40T>C MANE Select | ENSP00000227507.2:n.723+40T>C | |
ENST00000227507.2:c.723+40T>C | ENSP00000227507.2:n.723+40T>C | |
ENST00000536559.1:c.*183T>C | ENSP00000438482.1:n.*183T>C | |
ENST00000542367.1:n.186+40T>C | ||
NM_053056.2:c.723+40T>C | NP_444284.1:n.723+40T>C | |
XM_006718653.2:c.747+40T>C | XP_006718716.1:n.747+40T>C | |
NM_053056.3:c.723+40T>C MANE Select | NP_444284.1:n.723+40T>C |