HGVS | Genome Assembly |
---|---|
NC_000016.10:g.17138267A>T , CM000678.2:g.17138267A>T | GRCh38 |
NC_000016.9:g.17232124A>T , CM000678.1:g.17232124A>T | GRCh37 |
NC_000016.8:g.17139625A>T | NCBI36 |
NG_015843.1:g.337615T>A | |
NG_015843.2:g.337615T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261381.7:c.1764+88T>A MANE Select | ENSP00000261381.6:n.1764+88T>A | |
ENST00000261381.6:c.1764+88T>A | ENSP00000261381.6:n.1764+88T>A | |
NM_022166.3:c.1764+88T>A | NP_071449.1:n.1764+88T>A | |
XM_011522574.1:c.1764+88T>A | XP_011520876.1:n.1764+88T>A | |
XR_933140.1:n.361A>T | ||
XR_933141.1:n.200A>T | ||
XR_933143.1:n.262A>T | ||
NR_135179.1:n.172A>T | ||
XM_017023539.2:c.1764+88T>A | XP_016879028.1:n.1764+88T>A | |
XM_017023540.2:c.1764+88T>A | XP_016879029.1:n.1764+88T>A | |
NM_022166.4:c.1764+88T>A MANE Select | NP_071449.1:n.1764+88T>A |