HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652658G>C , CM000663.2:g.171652658G>C | GRCh38 |
NC_000001.10:g.171621798G>C , CM000663.1:g.171621798G>C | GRCh37 |
NC_000001.9:g.169888421G>C | NCBI36 |
NG_008859.1:g.4976C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.-47C>G MANE Select | ENSP00000037502.5:n.-47C>G | |
ENST00000037502.10:c.-47C>G | ENSP00000037502.5:n.-47C>G | |
NM_000261.2:c.-47C>G MANE Select | NP_000252.1:n.-47C>G |