HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147877961A>G , CM000669.2:g.147877961A>G | GRCh38 |
NC_000007.13:g.147575053A>G , CM000669.1:g.147575053A>G | GRCh37 |
NC_000007.12:g.147205986A>G | NCBI36 |
NG_007092.2:g.1766601A>G | |
NG_007092.3:g.1766961A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.2099-25604A>G MANE Select | ENSP00000354778.3:n.2099-25604A>G | |
ENST00000636870.1:n.1961-25604A>G | ||
ENST00000637825.1:n.1582-25604A>G | ||
ENST00000361727.7:c.2099-25604A>G | ENSP00000354778.3:n.2099-25604A>G | |
ENST00000455301.2:n.34-25604A>G | ||
ENST00000627772.2:n.272-25604A>G | ||
NM_014141.5:c.2099-25604A>G | NP_054860.1:n.2099-25604A>G | |
XM_006715919.1:c.587-25604A>G | XP_006715982.1:n.587-25604A>G | |
NM_014141.6:c.2099-25604A>G MANE Select | NP_054860.1:n.2099-25604A>G |