HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10659045G>C , CM000682.2:g.10659045G>C | GRCh38 |
NC_000020.10:g.10639693G>C , CM000682.1:g.10639693G>C | GRCh37 |
NC_000020.9:g.10587693G>C | NCBI36 |
NG_007496.1:g.20002C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.440-323C>G MANE Select | ENSP00000254958.4:n.440-323C>G | |
ENST00000254958.9:c.440-323C>G | ENSP00000254958.4:n.440-323C>G | |
ENST00000423891.6:n.306-323C>G | ||
NM_000214.2:c.440-323C>G | NP_000205.1:n.440-323C>G | |
NM_000214.3:c.440-323C>G MANE Select | NP_000205.1:n.440-323C>G |