HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10568390A>C , CM000681.2:g.10568390A>C | GRCh38 |
NC_000019.9:g.10679066A>C , CM000681.1:g.10679066A>C | GRCh37 |
NC_000019.8:g.10540066A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393599.3:c.141+123T>G MANE Select | ENSP00000377224.1:n.141+123T>G | |
ENST00000335766.2:c.141+123T>G | ENSP00000337056.1:n.141+123T>G | |
ENST00000393599.2:c.141+123T>G | ENSP00000377224.1:n.141+123T>G | |
NM_001800.3:c.141+123T>G | NP_001791.1:n.141+123T>G | |
NM_079421.2:c.141+123T>G | NP_524145.1:n.141+123T>G | |
NM_001800.4:c.141+123T>G MANE Select | NP_001791.1:n.141+123T>G | |
NM_079421.3:c.141+123T>G | NP_524145.1:n.141+123T>G |