HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99836263G>T , CM000672.2:g.99836263G>T | GRCh38 |
NC_000010.10:g.101596020G>T , CM000672.1:g.101596020G>T | GRCh37 |
NC_000010.9:g.101586010G>T | NCBI36 |
NG_011798.1:g.58558G>T | |
NG_011798.2:g.58666G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.3587G>T MANE Select | ENSP00000497274.1:p.Cys1196Phe | |
ENST00000370449.8:c.3587G>T | ENSP00000359478.4:p.Cys1196Phe | |
NM_000392.4:c.3587G>T | NP_000383.1:p.Cys1196Phe | |
XM_006717630.2:c.2891G>T | XP_006717693.1:p.Cys964Phe | |
XR_945604.1:n.3776G>T | ||
XR_945605.1:n.3778G>T | ||
NM_000392.5:c.3587G>T MANE Select | NP_000383.2:p.Cys1196Phe | |
XM_006717630.3:c.2891G>T | XP_006717693.1:p.Cys964Phe | |
XR_945604.3:n.3830G>T | ||
XR_945605.3:n.3830G>T |