HGVS | Genome Assembly |
---|---|
NC_000001.11:g.64832792T>G , CM000663.2:g.64832792T>G | GRCh38 |
NC_000001.10:g.65298475T>G , CM000663.1:g.65298475T>G | GRCh37 |
NC_000001.9:g.65071063T>G | NCBI36 |
NG_023402.1:g.138713A>C | |
NG_023402.2:g.239955A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000294428.8:c.*1807T>G MANE Select | ENSP00000294428.3:n.*1807T>G | |
ENST00000294428.7:c.*1807T>G | ENSP00000294428.3:n.*1807T>G | |
ENST00000371072.8:c.*1807T>G | ENSP00000360112.4:n.*1807T>G | |
NM_018211.3:c.*1807T>G | NP_060681.2:n.*1807T>G | |
XM_006710738.2:c.*1807T>G | XP_006710801.2:n.*1807T>G | |
NM_001366165.1:c.*1807T>G | NP_001353094.1:n.*1807T>G | |
XR_946693.3:n.4226T>G | ||
NM_018211.4:c.*1807T>G | NP_060681.2:n.*1807T>G | |
NM_001366165.2:c.*1807T>G MANE Select | NP_001353094.1:n.*1807T>G |