HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189046214A>T , CM000664.2:g.189046214A>T | GRCh38 |
NC_000002.11:g.189910940A>T , CM000664.1:g.189910940A>T | GRCh37 |
NC_000002.10:g.189619185A>T | NCBI36 |
NG_011799.1:g.138666T>A | |
NG_011799.2:g.138666T>A | |
NG_011799.3:g.184088T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.3202-307T>A MANE Select | ENSP00000364000.3:n.3202-307T>A | |
ENST00000374866.7:c.3202-307T>A | ENSP00000364000.3:n.3202-307T>A | |
ENST00000618828.1:c.2041-307T>A | ENSP00000482184.1:n.2041-307T>A | |
NM_000393.3:c.3202-307T>A | NP_000384.2:n.3202-307T>A | |
XM_011510573.1:c.3064-307T>A | XP_011508875.1:n.3064-307T>A | |
NM_000393.4:c.3202-307T>A | NP_000384.2:n.3202-307T>A | |
XM_011510573.3:c.3064-307T>A | XP_011508875.1:n.3064-307T>A | |
NM_000393.5:c.3202-307T>A MANE Select | NP_000384.2:n.3202-307T>A |