HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65958042C>A , CM000674.2:g.65958042C>A | GRCh38 |
NC_000012.11:g.66351822C>A , CM000674.1:g.66351822C>A | GRCh37 |
NC_000012.10:g.64638089C>A | NCBI36 |
NG_016296.1:g.138583C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403681.7:c.283-5203C>A MANE Select | ENSP00000384026.2:n.283-5203C>A | |
ENST00000403681.6:c.283-5203C>A | ENSP00000384026.2:n.283-5203C>A | |
ENST00000539662.1:c.320-5203C>A | ENSP00000440919.1:n.320-5203C>A | |
ENST00000541363.5:c.*6609C>A | ENSP00000439317.1:n.*6609C>A | |
NM_003483.4:c.283-5203C>A | NP_003474.1:n.283-5203C>A | |
NM_003483.6:c.283-5203C>A MANE Select | NP_003474.1:n.283-5203C>A |