HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43130266G>C , CM000672.2:g.43130266G>C | GRCh38 |
NC_000010.10:g.43625714G>C , CM000672.1:g.43625714G>C | GRCh37 |
NC_000010.9:g.42945720G>C | NCBI36 |
NG_007489.1:g.58198G>C , LRG_518:g.58198G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000615310.5:c.*3512G>C | ENSP00000480088.2:n.*3512G>C | |
ENST00000683007.1:n.6305G>C | ||
ENST00000355710.8:c.*1997G>C MANE Select | ENSP00000347942.3:n.*1997G>C | |
ENST00000355710.7:c.*1997G>C | ENSP00000347942.3:n.*1997G>C | |
ENST00000615310.4:c.*2691G>C | ENSP00000480088.1:n.*2691G>C | |
NM_020975.4:c.*1997G>C , LRG_518t1:c.*1997G>C | NP_066124.1:n.*1997G>C | |
XM_011540027.1:c.*765G>C | XP_011538329.1:n.*765G>C | |
NM_020975.5:c.*1997G>C | NP_066124.1:n.*1997G>C | |
NM_020975.6:c.*1997G>C MANE Select | NP_066124.1:n.*1997G>C |