HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648142G>C , CM000673.2:g.69648142G>C | GRCh38 |
NC_000011.9:g.69462910G>C , CM000673.1:g.69462910G>C | GRCh37 |
NC_000011.8:g.69172091G>C | NCBI36 |
NG_007375.1:g.12038G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227507.3:c.723G>C MANE Select | ENSP00000227507.2:p.Pro241= | |
ENST00000227507.2:c.723G>C | ENSP00000227507.2:p.Pro241= | |
ENST00000536559.1:c.*143G>C | ENSP00000438482.1:n.*143G>C | |
ENST00000542367.1:n.186G>C | ||
ENST00000545484.1:n.429G>C | ||
NM_053056.2:c.723G>C | NP_444284.1:p.Pro241= | |
XM_006718653.2:c.747G>C | XP_006718716.1:p.Pro249= | |
NM_053056.3:c.723G>C MANE Select | NP_444284.1:p.Pro241= |