HGVS | Genome Assembly |
---|---|
NC_000007.14:g.2723794C= , CM000669.2:g.2723794C= | GRCh38 |
NC_000007.13:g.2763428C= , CM000669.1:g.2763428C= | GRCh37 |
NC_000007.12:g.2729954C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000489665.1:n.550+13978C= | ||
XM_011515151.1:c.778+13978C= | XP_011513453.1:n.778+13978C= | |
NM_001321766.1:c.948+13978C= | NP_001308695.1:n.948+13978C= | |
XM_011515151.3:c.778+13978C= | XP_011513453.1:n.778+13978C= | |
XM_017011774.2:c.778+13978C= | XP_016867263.1:n.778+13978C= | |
NM_001321766.2:c.948+13978C= | NP_001308695.1:n.948+13978C= | |
NM_001384740.1:c.948+13978C= | NP_001371669.1:n.948+13978C= | |
NM_001384741.1:c.779-7227C= | NP_001371670.1:n.779-7227C= | |
NM_001384742.1:c.779-687C= | NP_001371671.1:n.779-687C= |