HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533898T>C , CM000681.2:g.7533898T>C | GRCh38 |
NC_000019.9:g.7598784T>C , CM000681.1:g.7598784T>C | GRCh37 |
NC_000019.8:g.7504784T>C | NCBI36 |
NG_013374.1:g.4747T>C | |
NG_015806.1:g.16289T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.*103T>C MANE Select | ENSP00000264079.5:n.*103T>C | |
ENST00000264079.10:c.*103T>C | ENSP00000264079.5:n.*103T>C | |
ENST00000394321.9:n.2161T>C | ||
ENST00000599334.1:c.574T>C | ||
ENST00000601870.1:c.169+30T>C | ||
ENST00000602227.1:n.400T>C | ||
NM_020533.2:c.*103T>C | NP_065394.1:n.*103T>C | |
NM_020533.3:c.*103T>C MANE Select | NP_065394.1:n.*103T>C |