HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114062G>C , CM000667.2:g.140114062G>C | GRCh38 |
NC_000005.9:g.139493647G>C , CM000667.1:g.139493647G>C | GRCh37 |
NC_000005.8:g.139473831G>C | NCBI36 |
NG_041813.1:g.4940G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000505703.2:c.-120G>C | ENSP00000498560.1:n.-120G>C | |
ENST00000651386.1:c.-120G>C | ENSP00000499133.1:n.-120G>C | |
ENST00000502351.1:n.304G>C | ||
ENST00000505703.1:n.346G>C |