HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272798C>A , CM000676.2:g.91272798C>A | GRCh38 |
NC_000014.8:g.91739142C>A , CM000676.1:g.91739142C>A | GRCh37 |
NC_000014.7:g.90808895C>A | NCBI36 |
NG_033118.1:g.150047G>T | |
NG_033118.2:g.150047G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5914G>T MANE Select | ENSP00000374507.6:p.Gly1972Cys | |
ENST00000331194.8:c.1348G>T | ENSP00000330332.8:p.Gly450Cys | |
ENST00000389857.10:c.5914G>T | ENSP00000374507.6:p.Gly1972Cys | |
ENST00000556726.5:c.2142G>T | ||
NM_001080414.3:c.5914G>T | NP_001073883.2:p.Gly1972Cys | |
XM_011536796.1:c.5806G>T | XP_011535098.1:p.Gly1936Cys | |
XM_011536796.2:c.5806G>T | XP_011535098.1:p.Gly1936Cys | |
XM_017021336.1:c.2995G>T | XP_016876825.1:p.Gly999Cys | |
NM_001080414.4:c.5914G>T MANE Select | NP_001073883.2:p.Gly1972Cys |