HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10644717G>C , CM000682.2:g.10644717G>C | GRCh38 |
NC_000020.10:g.10625365G>C , CM000682.1:g.10625365G>C | GRCh37 |
NC_000020.9:g.10573365G>C | NCBI36 |
NG_007496.1:g.34330C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.2344+146C>G MANE Select | ENSP00000254958.4:n.2344+146C>G | |
ENST00000617965.2:n.2933+146C>G | ||
ENST00000254958.9:c.2344+146C>G | ENSP00000254958.4:n.2344+146C>G | |
ENST00000423891.6:n.2210+146C>G | ||
ENST00000488480.2:n.887C>G | ||
NM_000214.2:c.2344+146C>G | NP_000205.1:n.2344+146C>G | |
NM_000214.3:c.2344+146C>G MANE Select | NP_000205.1:n.2344+146C>G |