HGVS | Genome Assembly |
---|---|
NC_000001.11:g.64833065A>G , CM000663.2:g.64833065A>G | GRCh38 |
NC_000001.10:g.65298748A>G , CM000663.1:g.65298748A>G | GRCh37 |
NC_000001.9:g.65071336A>G | NCBI36 |
NG_023402.1:g.138440T>C | |
NG_023402.2:g.239682T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000294428.8:c.*2080A>G MANE Select | ENSP00000294428.3:n.*2080A>G | |
ENST00000294428.7:c.*2080A>G | ENSP00000294428.3:n.*2080A>G | |
ENST00000371072.8:c.*2080A>G | ENSP00000360112.4:n.*2080A>G | |
NM_018211.3:c.*2080A>G | NP_060681.2:n.*2080A>G | |
XM_006710738.2:c.*2080A>G | XP_006710801.2:n.*2080A>G | |
NM_001366165.1:c.*2080A>G | NP_001353094.1:n.*2080A>G | |
XR_946693.3:n.4499A>G | ||
NM_018211.4:c.*2080A>G | NP_060681.2:n.*2080A>G | |
NM_001366165.2:c.*2080A>G MANE Select | NP_001353094.1:n.*2080A>G |