HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218710G>C , CM000676.2:g.93218710G>C | GRCh38 |
NC_000014.8:g.93685056G>C , CM000676.1:g.93685056G>C | GRCh37 |
NC_000014.7:g.92754809G>C | NCBI36 |
NG_051089.1:g.16655G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.785G>C MANE Select | ENSP00000013070.6:p.Gly262Ala | |
ENST00000013070.10:c.785G>C | ENSP00000013070.6:p.Gly262Ala | |
ENST00000416753.5:c.557G>C | ENSP00000391706.2:p.Gly186Ala | |
ENST00000553674.1:c.*486G>C | ENSP00000450470.1:n.*486G>C | |
ENST00000553857.5:c.378+3429G>C | ||
ENST00000555329.1:c.30G>C | ||
NM_175748.3:c.785G>C | NP_786924.2:p.Gly262Ala | |
NR_038150.1:n.887G>C | ||
NM_175748.4:c.785G>C MANE Select | NP_786924.2:p.Gly262Ala | |
NR_038150.2:n.687G>C |