HGVS | Genome Assembly |
---|---|
NC_000002.12:g.140963573A>T , CM000664.2:g.140963573A>T | GRCh38 |
NC_000002.11:g.141721142A>T , CM000664.1:g.141721142A>T | GRCh37 |
NC_000002.10:g.141437612A>T | NCBI36 |
NG_051023.1:g.1173891T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389484.8:c.2888-11633T>A MANE Select | ENSP00000374135.3:n.2888-11633T>A | |
ENST00000389484.7:c.2888-11633T>A | ENSP00000374135.3:n.2888-11633T>A | |
ENST00000434794.1:c.323-11633T>A | ENSP00000413239.1:n.323-11633T>A | |
ENST00000618808.4:c.2546-11633T>A | ENSP00000478868.1:n.2546-11633T>A | |
NM_018557.2:c.2888-11633T>A | NP_061027.2:n.2888-11633T>A | |
XM_011511352.1:c.2999-11633T>A | XP_011509654.1:n.2999-11633T>A | |
XM_017004341.1:c.2498-11633T>A | XP_016859830.1:n.2498-11633T>A | |
XR_001738778.1:n.4622-11633T>A | ||
NM_018557.3:c.2888-11633T>A MANE Select | NP_061027.2:n.2888-11633T>A |