HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713191G>C , CM000681.2:g.6713191G>C | GRCh38 |
NC_000019.9:g.6713202G>C , CM000681.1:g.6713202G>C | GRCh37 |
NC_000019.8:g.6664202G>C | NCBI36 |
NG_009557.1:g.12461C>G , LRG_27:g.12461C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.878C>G | ENSP00000512083.1:p.Ser293Ter | |
ENST00000695654.1:c.125C>G | ENSP00000512085.1:p.Ser42Ter | |
ENST00000695692.1:n.325C>G | ||
ENST00000245907.11:c.1001C>G MANE Select | ENSP00000245907.4:p.Ser334Ter | |
ENST00000245907.10:c.1001C>G | ENSP00000245907.4:p.Ser334Ter | |
ENST00000594270.5:n.125C>G | ||
ENST00000595577.1:n.505C>G | ||
ENST00000597442.5:n.251C>G | ||
NM_000064.3:c.1001C>G | NP_000055.2:p.Ser334Ter | |
NM_000064.4:c.1001C>G MANE Select | NP_000055.2:p.Ser334Ter |