HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80280197C>A , CM000672.2:g.80280197C>A | GRCh38 |
NC_000010.10:g.82039953C>A , CM000672.1:g.82039953C>A | GRCh37 |
NC_000010.9:g.82029933C>A | NCBI36 |
NG_008083.1:g.14482G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372213.8:c.525G>T MANE Select | ENSP00000361287.3:p.Trp175Cys | |
ENST00000372213.7:c.525G>T | ENSP00000361287.3:p.Trp175Cys | |
ENST00000455001.1:c.336G>T | ENSP00000414961.1:p.Trp112Cys | |
NM_000429.2:c.525G>T | NP_000420.1:p.Trp175Cys | |
XM_005269842.3:c.525G>T | XP_005269899.1:p.Trp175Cys | |
XM_005269843.3:c.402G>T | XP_005269900.1:p.Trp134Cys | |
NM_000429.3:c.525G>T MANE Select | NP_000420.1:p.Trp175Cys |