HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652388T>A , CM000663.2:g.171652388T>A | GRCh38 |
NC_000001.10:g.171621528T>A , CM000663.1:g.171621528T>A | GRCh37 |
NC_000001.9:g.169888151T>A | NCBI36 |
NG_008859.1:g.5246A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.224A>T MANE Select | ENSP00000037502.5:p.Gln75Leu | |
ENST00000638471.1:c.130+94A>T | ENSP00000491206.1:n.130+94A>T | |
ENST00000037502.10:c.224A>T | ENSP00000037502.5:p.Gln75Leu | |
ENST00000614688.1:c.224A>T | ENSP00000478680.1:p.Gln75Leu | |
NM_000261.1:c.224A>T | NP_000252.1:p.Gln75Leu | |
NM_000261.2:c.224A>T MANE Select | NP_000252.1:p.Gln75Leu |