HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65958053T>C , CM000674.2:g.65958053T>C | GRCh38 |
NC_000012.11:g.66351833T>C , CM000674.1:g.66351833T>C | GRCh37 |
NC_000012.10:g.64638100T>C | NCBI36 |
NG_016296.1:g.138594T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403681.7:c.283-5192T>C MANE Select | ENSP00000384026.2:n.283-5192T>C | |
ENST00000403681.6:c.283-5192T>C | ENSP00000384026.2:n.283-5192T>C | |
ENST00000539662.1:c.320-5192T>C | ENSP00000440919.1:n.320-5192T>C | |
ENST00000541363.5:c.*6620T>C | ENSP00000439317.1:n.*6620T>C | |
NM_003483.4:c.283-5192T>C | NP_003474.1:n.283-5192T>C | |
NM_003483.6:c.283-5192T>C MANE Select | NP_003474.1:n.283-5192T>C |