HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6710858G>C , CM000681.2:g.6710858G>C | GRCh38 |
NC_000019.9:g.6710869G>C , CM000681.1:g.6710869G>C | GRCh37 |
NC_000019.8:g.6661869G>C | NCBI36 |
NG_009557.1:g.14794C>G , LRG_27:g.14794C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1357-13C>G | ENSP00000512083.1:n.1357-13C>G | |
ENST00000695654.1:c.604-13C>G | ENSP00000512085.1:n.604-13C>G | |
ENST00000695655.1:c.372C>G | ENSP00000512086.1:p.Ser124Arg | |
ENST00000695692.1:n.844-13C>G | ||
ENST00000245907.11:c.1480-13C>G MANE Select | ENSP00000245907.4:n.1480-13C>G | |
ENST00000245907.10:c.1480-13C>G | ENSP00000245907.4:n.1480-13C>G | |
ENST00000600763.1:n.100C>G | ||
NM_000064.3:c.1480-13C>G | NP_000055.2:n.1480-13C>G | |
NM_000064.4:c.1480-13C>G MANE Select | NP_000055.2:n.1480-13C>G |