HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652072C>G , CM000663.2:g.171652072C>G | GRCh38 |
NC_000001.10:g.171621212C>G , CM000663.1:g.171621212C>G | GRCh37 |
NC_000001.9:g.169887835C>G | NCBI36 |
NG_008859.1:g.5562G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.540G>C MANE Select | ENSP00000037502.5:p.Leu180= | |
ENST00000638471.1:c.130+410G>C | ENSP00000491206.1:n.130+410G>C | |
ENST00000037502.10:c.540G>C | ENSP00000037502.5:p.Leu180= | |
ENST00000614688.1:c.540G>C | ENSP00000478680.1:p.Leu180= | |
NM_000261.1:c.540G>C | NP_000252.1:p.Leu180= | |
NM_000261.2:c.540G>C MANE Select | NP_000252.1:p.Leu180= |