HGVS | Genome Assembly |
---|---|
NC_000002.12:g.86133450T>G , CM000664.2:g.86133450T>G | GRCh38 |
NC_000002.11:g.86360573T>G , CM000664.1:g.86360573T>G | GRCh37 |
NC_000002.10:g.86214084T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000254630.12:c.1543+14T>G MANE Select | ENSP00000254630.7:n.1543+14T>G | |
ENST00000254630.11:c.1543+14T>G | ENSP00000254630.7:n.1543+14T>G | |
ENST00000467273.5:n.524+14T>G | ||
ENST00000469585.5:n.439+14T>G | ||
ENST00000472044.1:n.168+14T>G | ||
ENST00000477520.1:n.114+14T>G | ||
ENST00000487043.5:n.458+14T>G | ||
ENST00000493430.5:n.583+14T>G | ||
ENST00000494323.5:n.356+14T>G | ||
NM_017952.5:c.1543+14T>G | NP_060422.4:n.1543+14T>G | |
NM_017952.6:c.1543+14T>G MANE Select | NP_060422.4:n.1543+14T>G |