HGVS | Genome Assembly |
---|---|
NC_000014.9:g.67748348C>T , CM000676.2:g.67748348C>T | GRCh38 |
NC_000014.8:g.68215065C>T , CM000676.1:g.68215065C>T | GRCh37 |
NC_000014.7:g.67284818C>T | NCBI36 |
NG_011836.1:g.73242G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000347230.9:c.*88G>A MANE Select | ENSP00000251119.5:n.*88G>A | |
ENST00000676512.1:c.*88G>A | ENSP00000504552.1:n.*88G>A | |
ENST00000676620.1:c.*88G>A | ENSP00000504587.1:n.*88G>A | |
ENST00000678386.1:c.*88G>A | ENSP00000503677.1:n.*88G>A | |
ENST00000347230.8:c.*88G>A | ENSP00000251119.5:n.*88G>A | |
ENST00000394455.6:n.2679+2704G>A | ||
ENST00000554523.5:n.8463G>A | ||
ENST00000554557.5:c.*5686G>A | ENSP00000450431.1:n.*5686G>A | |
NM_015346.3:c.*88G>A | NP_056161.2:n.*88G>A | |
XM_006720093.2:c.7416+2704G>A | XP_006720156.1:n.7416+2704G>A | |
XM_011536606.1:c.*88G>A | XP_011534908.1:n.*88G>A | |
XM_011536607.1:c.*88G>A | XP_011534909.1:n.*88G>A | |
XM_011536608.1:c.*88G>A | XP_011534910.1:n.*88G>A | |
XM_017021124.1:c.*88G>A | XP_016876613.1:n.*88G>A | |
XM_017021125.1:c.7434+2704G>A | XP_016876614.1:n.7434+2704G>A | |
XM_017021126.1:c.*88G>A | XP_016876615.1:n.*88G>A | |
XM_017021127.2:c.*88G>A | XP_016876616.1:n.*88G>A | |
XM_017021128.1:c.*88G>A | XP_016876617.1:n.*88G>A | |
NM_015346.4:c.*88G>A MANE Select | NP_056161.2:n.*88G>A |