HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750814G>C , CM000684.2:g.27750814G>C | GRCh38 |
NC_000022.10:g.28146802G>C , CM000684.1:g.28146802G>C | GRCh37 |
NC_000022.9:g.26476802G>C | NCBI36 |
NG_023258.1:g.55685C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.589C>G | ||
ENST00000302326.5:c.*101C>G MANE Select | ENSP00000304956.4:n.*101C>G | |
ENST00000302326.4:c.*101C>G | ENSP00000304956.4:n.*101C>G | |
ENST00000424656.1:c.417C>G | ||
ENST00000497225.1:n.420C>G | ||
NM_002430.2:c.*101C>G | NP_002421.3:n.*101C>G | |
NM_002430.3:c.*101C>G MANE Select | NP_002421.3:n.*101C>G |