HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713229C>G , CM000681.2:g.6713229C>G | GRCh38 |
NC_000019.9:g.6713240C>G , CM000681.1:g.6713240C>G | GRCh37 |
NC_000019.8:g.6664240C>G | NCBI36 |
NG_009557.1:g.12423G>C , LRG_27:g.12423G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.840G>C | ENSP00000512083.1:p.Gly280= | |
ENST00000695654.1:c.87G>C | ENSP00000512085.1:p.Gly29= | |
ENST00000695692.1:n.287G>C | ||
ENST00000245907.11:c.963G>C MANE Select | ENSP00000245907.4:p.Gly321= | |
ENST00000245907.10:c.963G>C | ENSP00000245907.4:p.Gly321= | |
ENST00000594270.5:n.87G>C | ||
ENST00000595577.1:n.467G>C | ||
ENST00000597442.5:n.213G>C | ||
NM_000064.3:c.963G>C | NP_000055.2:p.Gly321= | |
NM_000064.4:c.963G>C MANE Select | NP_000055.2:p.Gly321= |