HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6712851G= , CM000681.2:g.6712851G= | GRCh38 |
NC_000019.9:g.6712862G= , CM000681.1:g.6712862G= | GRCh37 |
NC_000019.8:g.6663862G= | NCBI36 |
NG_009557.1:g.12801C= , LRG_27:g.12801C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.881-228C= | ENSP00000512083.1:n.881-228C= | |
ENST00000695654.1:c.128-228C= | ENSP00000512085.1:n.128-228C= | |
ENST00000695692.1:n.328-188C= | ||
ENST00000245907.11:c.1004-228C= MANE Select | ENSP00000245907.4:n.1004-228C= | |
ENST00000245907.10:c.1004-228C= | ENSP00000245907.4:n.1004-228C= | |
ENST00000594270.5:n.128-249C= | ||
ENST00000595577.1:n.508-228C= | ||
ENST00000597442.5:n.254-228C= | ||
NM_000064.3:c.1004-228C= | NP_000055.2:n.1004-228C= | |
NM_000064.4:c.1004-228C= MANE Select | NP_000055.2:n.1004-228C= |