HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713391C= , CM000681.2:g.6713391C= | GRCh38 |
NC_000019.9:g.6713402C= , CM000681.1:g.6713402C= | GRCh37 |
NC_000019.8:g.6664402C= | NCBI36 |
NG_009557.1:g.12261G= , LRG_27:g.12261G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.753+16G= | ENSP00000512083.1:n.753+16G= | |
ENST00000695692.1:n.200+16G= | ||
ENST00000245907.11:c.876+16G= MANE Select | ENSP00000245907.4:n.876+16G= | |
ENST00000245907.10:c.876+16G= | ENSP00000245907.4:n.876+16G= | |
ENST00000595577.1:n.380+16G= | ||
ENST00000597442.5:n.126+16G= | ||
NM_000064.3:c.876+16G= | NP_000055.2:n.876+16G= | |
NM_000064.4:c.876+16G= MANE Select | NP_000055.2:n.876+16G= |