HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652664C>G , CM000663.2:g.171652664C>G | GRCh38 |
NC_000001.10:g.171621804C>G , CM000663.1:g.171621804C>G | GRCh37 |
NC_000001.9:g.169888427C>G | NCBI36 |
NG_008859.1:g.4970G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.-53G>C MANE Select | ENSP00000037502.5:n.-53G>C | |
ENST00000037502.10:c.-53G>C | ENSP00000037502.5:n.-53G>C | |
NM_000261.2:c.-53G>C MANE Select | NP_000252.1:n.-53G>C |