HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43130238T>C , CM000672.2:g.43130238T>C | GRCh38 |
NC_000010.10:g.43625686T>C , CM000672.1:g.43625686T>C | GRCh37 |
NC_000010.9:g.42945692T>C | NCBI36 |
NG_007489.1:g.58170T>C , LRG_518:g.58170T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000615310.5:c.*3484T>C | ENSP00000480088.2:n.*3484T>C | |
ENST00000683007.1:n.6277T>C | ||
ENST00000355710.8:c.*1969T>C MANE Select | ENSP00000347942.3:n.*1969T>C | |
ENST00000355710.7:c.*1969T>C | ENSP00000347942.3:n.*1969T>C | |
ENST00000615310.4:c.*2663T>C | ENSP00000480088.1:n.*2663T>C | |
NM_020975.4:c.*1969T>C , LRG_518t1:c.*1969T>C | NP_066124.1:n.*1969T>C | |
XM_011540027.1:c.*737T>C | XP_011538329.1:n.*737T>C | |
NM_020975.5:c.*1969T>C | NP_066124.1:n.*1969T>C | |
NM_020975.6:c.*1969T>C MANE Select | NP_066124.1:n.*1969T>C |