HGVS | Genome Assembly |
---|---|
NC_000012.12:g.55954206G= , CM000674.2:g.55954206G= | GRCh38 |
NC_000012.11:g.56347990G= , CM000674.1:g.56347990G= | GRCh37 |
NC_000012.10:g.54634257G= | NCBI36 |
NG_028086.1:g.17507C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000548747.6:c.*8C= MANE Select | ENSP00000448828.1:n.*8C= | |
ENST00000449260.6:c.*8C= | ENSP00000402758.2:n.*8C= | |
ENST00000548493.5:c.*8C= | ENSP00000447374.1:n.*8C= | |
ENST00000548747.5:c.*8C= | ENSP00000448828.1:n.*8C= | |
ENST00000550447.5:c.*8C= | ENSP00000448029.1:n.*8C= | |
ENST00000550464.5:c.*8C= | ENSP00000450036.1:n.*8C= | |
ENST00000552882.5:c.*8C= | ENSP00000449690.1:n.*8C= | |
NM_001200053.1:c.*8C= | NP_001186982.1:n.*8C= | |
NM_001200054.1:c.*8C= | NP_001186983.1:n.*8C= | |
NM_006928.4:c.*8C= | NP_008859.1:n.*8C= | |
XM_006719569.1:c.*8C= | XP_006719632.1:n.*8C= | |
XM_011538685.1:c.*8C= | XP_011536987.1:n.*8C= | |
XM_011538686.1:c.*8C= | XP_011536988.1:n.*8C= | |
XM_011538687.1:c.*8C= | XP_011536989.1:n.*8C= | |
NM_001320121.1:c.*8C= | NP_001307050.1:n.*8C= | |
NM_001320122.1:c.*8C= | NP_001307051.1:n.*8C= | |
NM_001384361.1:c.*8C= MANE Select | NP_001371290.1:n.*8C= | |
NM_006928.5:c.*8C= | NP_008859.1:n.*8C= |