HGVS | Genome Assembly |
---|---|
NC_000011.10:g.46721697T>C , CM000673.2:g.46721697T>C | GRCh38 |
NC_000011.9:g.46743247T>C , CM000673.1:g.46743247T>C | GRCh37 |
NC_000011.8:g.46699823T>C | NCBI36 |
NG_008953.1:g.7505T>C , LRG_551:g.7505T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311907.10:c.316+857T>C MANE Select | ENSP00000308541.5:n.316+857T>C | |
ENST00000311907.9:c.316+857T>C | ENSP00000308541.5:n.316+857T>C | |
ENST00000442468.1:c.286+857T>C | ENSP00000387413.1:n.286+857T>C | |
ENST00000530231.5:c.316+857T>C | ENSP00000433907.1:n.316+857T>C | |
NM_000506.3:c.316+857T>C | NP_000497.1:n.316+857T>C | |
NM_000506.4:c.316+857T>C , LRG_551t1:c.316+857T>C | NP_000497.1:n.316+857T>C | |
NM_001311257.1:c.268+857T>C | NP_001298186.1:n.268+857T>C | |
XR_428840.2:n.360+857T>C | ||
XR_428840.4:n.351+857T>C | ||
NM_000506.5:c.316+857T>C MANE Select | NP_000497.1:n.316+857T>C | |
NM_001311257.2:c.268+857T>C | NP_001298186.1:n.268+857T>C |