HGVS | Genome Assembly |
---|---|
NC_000001.11:g.64832876T>C , CM000663.2:g.64832876T>C | GRCh38 |
NC_000001.10:g.65298559T>C , CM000663.1:g.65298559T>C | GRCh37 |
NC_000001.9:g.65071147T>C | NCBI36 |
NG_023402.1:g.138629A>G | |
NG_023402.2:g.239871A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000294428.8:c.*1891T>C MANE Select | ENSP00000294428.3:n.*1891T>C | |
ENST00000294428.7:c.*1891T>C | ENSP00000294428.3:n.*1891T>C | |
ENST00000371072.8:c.*1891T>C | ENSP00000360112.4:n.*1891T>C | |
NM_018211.3:c.*1891T>C | NP_060681.2:n.*1891T>C | |
XM_006710738.2:c.*1891T>C | XP_006710801.2:n.*1891T>C | |
NM_001366165.1:c.*1891T>C | NP_001353094.1:n.*1891T>C | |
XR_946693.3:n.4310T>C | ||
NM_018211.4:c.*1891T>C | NP_060681.2:n.*1891T>C | |
NM_001366165.2:c.*1891T>C MANE Select | NP_001353094.1:n.*1891T>C |