HGVS | Genome Assembly |
---|---|
NC_000002.12:g.48755738C>G , CM000664.2:g.48755738C>G | GRCh38 |
NC_000002.11:g.48982877C>G , CM000664.1:g.48982877C>G | GRCh37 |
NC_000002.10:g.48836381C>G | NCBI36 |
NG_008193.1:g.5004G>C | |
NG_033050.1:g.230814C>G | |
NG_008193.2:g.5004G>C | |
NG_033050.2:g.230814C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000402114.6:c.3442-20542C>G (STON1-GTF2A1L) | ENSP00000385701.1:n.3442-20542C>G | |
NM_000233.3:c.-67G>C (LHCGR) | NP_000224.2:n.-67G>C | |
NM_001198593.1:c.3442-20542C>G (STON1-GTF2A1L) | NP_001185522.1:n.3442-20542C>G | |
NM_001198593.2:c.3442-20542C>G (STON1-GTF2A1L) | NP_001185522.1:n.3442-20542C>G |