HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983364G>T , CM000678.2:g.56983364G>T | GRCh38 |
NC_000016.9:g.57017276G>T , CM000678.1:g.57017276G>T | GRCh37 |
NC_000016.8:g.55574777G>T | NCBI36 |
NG_008952.1:g.26442G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1360G>T MANE Select | ENSP00000200676.3:p.Gly454Cys | |
ENST00000650358.1:n.1758G>T | ||
ENST00000200676.7:c.1360G>T | ENSP00000200676.3:p.Gly454Cys | |
ENST00000379780.6:c.1180G>T | ENSP00000369106.2:p.Gly394Cys | |
ENST00000566128.1:c.1165G>T | ENSP00000456276.1:p.Gly389Cys | |
NM_000078.2:c.1360G>T | NP_000069.2:p.Gly454Cys | |
NM_001286085.1:c.1180G>T | NP_001273014.1:p.Gly394Cys | |
NM_000078.3:c.1360G>T MANE Select | NP_000069.2:p.Gly454Cys | |
NM_001286085.2:c.1180G>T | NP_001273014.1:p.Gly394Cys |