HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69649925T>C , CM000673.2:g.69649925T>C | GRCh38 |
NC_000011.9:g.69464693T>C , CM000673.1:g.69464693T>C | GRCh37 |
NC_000011.8:g.69173874T>C | NCBI36 |
NG_007375.1:g.13821T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227507.3:c.724-1193T>C MANE Select | ENSP00000227507.2:n.724-1193T>C | |
ENST00000227507.2:c.724-1193T>C | ENSP00000227507.2:n.724-1193T>C | |
ENST00000542367.1:n.187-1193T>C | ||
NM_053056.2:c.724-1193T>C | NP_444284.1:n.724-1193T>C | |
XM_006718653.2:c.748-1193T>C | XP_006718716.1:n.748-1193T>C | |
NM_053056.3:c.724-1193T>C MANE Select | NP_444284.1:n.724-1193T>C |