HGVS | Genome Assembly |
---|---|
NC_000007.14:g.2723776C= , CM000669.2:g.2723776C= | GRCh38 |
NC_000007.13:g.2763410C= , CM000669.1:g.2763410C= | GRCh37 |
NC_000007.12:g.2729936C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000489665.1:n.550+13960C= | ||
XM_011515151.1:c.778+13960C= | XP_011513453.1:n.778+13960C= | |
NM_001321766.1:c.948+13960C= | NP_001308695.1:n.948+13960C= | |
XM_011515151.3:c.778+13960C= | XP_011513453.1:n.778+13960C= | |
XM_017011774.2:c.778+13960C= | XP_016867263.1:n.778+13960C= | |
NM_001321766.2:c.948+13960C= | NP_001308695.1:n.948+13960C= | |
NM_001384740.1:c.948+13960C= | NP_001371669.1:n.948+13960C= | |
NM_001384741.1:c.779-7245C= | NP_001371670.1:n.779-7245C= | |
NM_001384742.1:c.779-705C= | NP_001371671.1:n.779-705C= |