HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65958071G>T , CM000674.2:g.65958071G>T | GRCh38 |
NC_000012.11:g.66351851G>T , CM000674.1:g.66351851G>T | GRCh37 |
NC_000012.10:g.64638118G>T | NCBI36 |
NG_016296.1:g.138612G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403681.7:c.283-5174G>T MANE Select | ENSP00000384026.2:n.283-5174G>T | |
ENST00000403681.6:c.283-5174G>T | ENSP00000384026.2:n.283-5174G>T | |
ENST00000539662.1:c.320-5174G>T | ENSP00000440919.1:n.320-5174G>T | |
ENST00000541363.5:c.*6638G>T | ENSP00000439317.1:n.*6638G>T | |
NM_003483.4:c.283-5174G>T | NP_003474.1:n.283-5174G>T | |
NM_003483.6:c.283-5174G>T MANE Select | NP_003474.1:n.283-5174G>T |