HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19961011G>T , CM000670.2:g.19961011G>T | GRCh38 |
NC_000008.10:g.19818522G>T , CM000670.1:g.19818522G>T | GRCh37 |
NC_000008.9:g.19862802G>T | NCBI36 |
NG_008855.1:g.26941G>T | |
NG_008855.2:g.64295G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1250G>T MANE Select | ENSP00000497642.1:p.Trp417Leu | |
ENST00000650478.1:c.190G>T | ENSP00000497560.1:n.190G>T | |
ENST00000311322.8:c.1250G>T | ENSP00000309757.6:p.Trp417Leu | |
NM_000237.2:c.1250G>T | NP_000228.1:p.Trp417Leu | |
NM_000237.3:c.1250G>T MANE Select | NP_000228.1:p.Trp417Leu |