HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652443T>G , CM000663.2:g.171652443T>G | GRCh38 |
NC_000001.10:g.171621583T>G , CM000663.1:g.171621583T>G | GRCh37 |
NC_000001.9:g.169888206T>G | NCBI36 |
NG_008859.1:g.5191A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.169A>C MANE Select | ENSP00000037502.5:p.Asn57His | |
ENST00000638471.1:c.130+39A>C | ENSP00000491206.1:n.130+39A>C | |
ENST00000037502.10:c.169A>C | ENSP00000037502.5:p.Asn57His | |
ENST00000614688.1:c.169A>C | ENSP00000478680.1:p.Asn57His | |
NM_000261.1:c.169A>C | NP_000252.1:p.Asn57His | |
NM_000261.2:c.169A>C MANE Select | NP_000252.1:p.Asn57His |