HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750540T>C , CM000684.2:g.27750540T>C | GRCh38 |
NC_000022.10:g.28146528T>C , CM000684.1:g.28146528T>C | GRCh37 |
NC_000022.9:g.26476528T>C | NCBI36 |
NG_023258.1:g.55959A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.863A>G | ||
ENST00000302326.5:c.*375A>G MANE Select | ENSP00000304956.4:n.*375A>G | |
ENST00000302326.4:c.*375A>G | ENSP00000304956.4:n.*375A>G | |
ENST00000424656.1:c.455+236A>G | ||
NM_002430.2:c.*375A>G | NP_002421.3:n.*375A>G | |
NM_002430.3:c.*375A>G MANE Select | NP_002421.3:n.*375A>G |