HGVS | Genome Assembly |
---|---|
NC_000011.10:g.46722818T>C , CM000673.2:g.46722818T>C | GRCh38 |
NC_000011.9:g.46744368T>C , CM000673.1:g.46744368T>C | GRCh37 |
NC_000011.8:g.46700944T>C | NCBI36 |
NG_008953.1:g.8626T>C , LRG_551:g.8626T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311907.10:c.317-362T>C MANE Select | ENSP00000308541.5:n.317-362T>C | |
ENST00000311907.9:c.317-362T>C | ENSP00000308541.5:n.317-362T>C | |
ENST00000442468.1:c.287-362T>C | ENSP00000387413.1:n.287-362T>C | |
ENST00000530231.5:c.317-362T>C | ENSP00000433907.1:n.317-362T>C | |
NM_000506.3:c.317-362T>C | NP_000497.1:n.317-362T>C | |
NM_000506.4:c.317-362T>C , LRG_551t1:c.317-362T>C | NP_000497.1:n.317-362T>C | |
NM_001311257.1:c.269-362T>C | NP_001298186.1:n.269-362T>C | |
XR_428840.2:n.361-362T>C | ||
XR_428840.4:n.352-362T>C | ||
NM_000506.5:c.317-362T>C MANE Select | NP_000497.1:n.317-362T>C | |
NM_001311257.2:c.269-362T>C | NP_001298186.1:n.269-362T>C |