HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652399G>A , CM000663.2:g.171652399G>A | GRCh38 |
NC_000001.10:g.171621539G>A , CM000663.1:g.171621539G>A | GRCh37 |
NC_000001.9:g.169888162G>A | NCBI36 |
NG_008859.1:g.5235C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.213C>T MANE Select | ENSP00000037502.5:p.Ile71= | |
ENST00000638471.1:c.130+83C>T | ENSP00000491206.1:n.130+83C>T | |
ENST00000037502.10:c.213C>T | ENSP00000037502.5:p.Ile71= | |
ENST00000614688.1:c.213C>T | ENSP00000478680.1:p.Ile71= | |
NM_000261.1:c.213C>T | NP_000252.1:p.Ile71= | |
NM_000261.2:c.213C>T MANE Select | NP_000252.1:p.Ile71= |