HGVS | Genome Assembly |
---|---|
NC_000019.10:g.16674913C>A , CM000681.2:g.16674913C>A | GRCh38 |
NC_000019.9:g.16785724C>A , CM000681.1:g.16785724C>A | GRCh37 |
NC_000019.8:g.16646724C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000187762.7:c.125-5071C>A MANE Select | ENSP00000187762.1:n.125-5071C>A | |
ENST00000187762.6:c.125-5071C>A | ENSP00000187762.1:n.125-5071C>A | |
ENST00000595452.1:n.101-5071C>A | ||
ENST00000599479.1:c.82-5071C>A | ||
NM_024074.1:c.125-5071C>A | NP_076979.1:n.125-5071C>A | |
NM_024074.2:c.125-5071C>A | NP_076979.1:n.125-5071C>A | |
NM_024074.3:c.125-5071C>A | NP_076979.1:n.125-5071C>A | |
NM_024074.4:c.125-5071C>A MANE Select | NP_076979.1:n.125-5071C>A |