HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750382C>G , CM000684.2:g.27750382C>G | GRCh38 |
NC_000022.10:g.28146370C>G , CM000684.1:g.28146370C>G | GRCh37 |
NC_000022.9:g.26476370C>G | NCBI36 |
NG_023258.1:g.56117G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.1021G>C | ||
ENST00000302326.5:c.*533G>C MANE Select | ENSP00000304956.4:n.*533G>C | |
ENST00000302326.4:c.*533G>C | ENSP00000304956.4:n.*533G>C | |
ENST00000424656.1:c.456-154G>C | ||
NM_002430.2:c.*533G>C | NP_002421.3:n.*533G>C | |
NM_002430.3:c.*533G>C MANE Select | NP_002421.3:n.*533G>C |