HGVS | Genome Assembly |
---|---|
NC_000010.11:g.43130176G>T , CM000672.2:g.43130176G>T | GRCh38 |
NC_000010.10:g.43625624G>T , CM000672.1:g.43625624G>T | GRCh37 |
NC_000010.9:g.42945630G>T | NCBI36 |
NG_007489.1:g.58108G>T , LRG_518:g.58108G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615310.5:c.*3422G>T | ENSP00000480088.2:n.*3422G>T | |
ENST00000683007.1:n.6215G>T | ||
ENST00000355710.8:c.*1907G>T MANE Select | ENSP00000347942.3:n.*1907G>T | |
ENST00000355710.7:c.*1907G>T | ENSP00000347942.3:n.*1907G>T | |
ENST00000615310.4:c.*2601G>T | ENSP00000480088.1:n.*2601G>T | |
NM_020975.4:c.*1907G>T , LRG_518t1:c.*1907G>T | NP_066124.1:n.*1907G>T | |
XM_011540027.1:c.*675G>T | XP_011538329.1:n.*675G>T | |
NM_020975.5:c.*1907G>T | NP_066124.1:n.*1907G>T | |
NM_020975.6:c.*1907G>T MANE Select | NP_066124.1:n.*1907G>T |