HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530320T>G , CM000681.2:g.7530320T>G | GRCh38 |
NC_000019.9:g.7595206T>G , CM000681.1:g.7595206T>G | GRCh37 |
NC_000019.8:g.7501206T>G | NCBI36 |
NG_013374.1:g.1169T>G | |
NG_015806.1:g.12711T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1394T>G MANE Select | ENSP00000264079.5:p.Phe465Cys | |
ENST00000264079.10:c.1394T>G | ENSP00000264079.5:p.Phe465Cys | |
ENST00000394321.9:n.1709T>G | ||
ENST00000594692.1:n.390T>G | ||
ENST00000595860.5:n.577T>G | ||
ENST00000599334.1:c.237-115T>G | ||
NM_020533.2:c.1394T>G | NP_065394.1:p.Phe465Cys | |
NM_020533.3:c.1394T>G MANE Select | NP_065394.1:p.Phe465Cys |