HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709741C>G , CM000681.2:g.6709741C>G | GRCh38 |
NC_000019.9:g.6709752C>G , CM000681.1:g.6709752C>G | GRCh37 |
NC_000019.8:g.6660752C>G | NCBI36 |
NG_009557.1:g.15911G>C , LRG_27:g.15911G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1665G>C | ENSP00000512083.1:p.Val555= | |
ENST00000695654.1:c.912G>C | ENSP00000512085.1:p.Val304= | |
ENST00000695655.1:c.729G>C | ENSP00000512086.1:n.729G>C | |
ENST00000695692.1:n.1152G>C | ||
ENST00000245907.11:c.1788G>C MANE Select | ENSP00000245907.4:p.Val596= | |
ENST00000245907.10:c.1788G>C | ENSP00000245907.4:p.Val596= | |
NM_000064.3:c.1788G>C | NP_000055.2:p.Val596= | |
NM_000064.4:c.1788G>C MANE Select | NP_000055.2:p.Val596= |