HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832806G>T , CM000673.2:g.116832806G>T | GRCh38 |
NC_000011.9:g.116703522G>T , CM000673.1:g.116703522G>T | GRCh37 |
NC_000011.8:g.116208732G>T | NCBI36 |
NG_008949.1:g.7899G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227667.8:c.222G>T MANE Select | ENSP00000227667.2:p.Trp74Cys | |
ENST00000227667.7:c.222G>T | ENSP00000227667.2:p.Trp74Cys | |
ENST00000375345.3:c.276G>T | ENSP00000364494.1:p.Trp92Cys | |
ENST00000630701.1:c.276G>T | ENSP00000486182.1:p.Trp92Cys | |
NM_000040.1:c.222G>T | NP_000031.1:p.Trp74Cys | |
NM_000040.2:c.222G>T | NP_000031.1:p.Trp74Cys | |
NM_000040.3:c.222G>T MANE Select | NP_000031.1:p.Trp74Cys |