HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6870391C= , CM000674.2:g.6870391C= | GRCh38 |
NC_000012.11:g.6979555C= , CM000674.1:g.6979555C= | GRCh37 |
NC_000012.10:g.6849816C= | NCBI36 |
NG_011948.1:g.7972C= | |
NG_013308.1:g.7967G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396705.10:c.*8C= MANE Select | ENSP00000379933.4:n.*8C= | |
ENST00000229270.8:c.*8C= | ENSP00000229270.4:n.*8C= | |
ENST00000396705.9:c.*8C= | ENSP00000379933.4:n.*8C= | |
ENST00000474253.1:n.247C= | ||
ENST00000535434.5:c.*8C= | ENSP00000443599.1:n.*8C= | |
ENST00000613953.4:c.*8C= | ENSP00000484435.1:n.*8C= | |
NM_000365.5:c.*8C= | NP_000356.1:n.*8C= | |
NM_001159287.1:c.*8C= | NP_001152759.1:n.*8C= | |
NM_001258026.1:c.*8C= | NP_001244955.1:n.*8C= | |
XR_002957378.1:n.1766C= | ||
NM_000365.6:c.*8C= MANE Select | NP_000356.1:n.*8C= | |
NM_001258026.2:c.*8C= | NP_001244955.1:n.*8C= |