HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233347002G>A , CM000664.2:g.233347002G>A | GRCh38 |
NC_000002.11:g.234255648G>A , CM000664.1:g.234255648G>A | GRCh37 |
NC_000002.10:g.233920387G>A | NCBI36 |
NG_009116.1:g.44340G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409110.6:c.*90G>A MANE Select | ENSP00000386444.1:n.*90G>A | |
ENST00000409110.5:c.*90G>A | ENSP00000386444.1:n.*90G>A | |
ENST00000412969.6:n.2528G>A | ||
ENST00000471884.5:n.3339G>A | ||
ENST00000474220.5:n.514G>A | ||
ENST00000476500.5:n.6607G>A | ||
ENST00000492629.1:n.269G>A | ||
NM_000541.4:c.*90G>A | NP_000532.2:n.*90G>A | |
XM_011511589.1:c.*90G>A | XP_011509891.1:n.*90G>A | |
XM_011511590.1:c.*90G>A | XP_011509892.1:n.*90G>A | |
XM_011511591.1:c.*176G>A | XP_011509893.1:n.*176G>A | |
XM_011511592.1:c.*90G>A | XP_011509894.1:n.*90G>A | |
XM_011511593.1:c.*90G>A | XP_011509895.1:n.*90G>A | |
XM_011511594.1:c.*90G>A | XP_011509896.1:n.*90G>A | |
XM_011511596.1:c.*90G>A | XP_011509898.1:n.*90G>A | |
XM_011511597.1:c.*90G>A | XP_011509899.1:n.*90G>A | |
XR_922978.1:n.1625G>A | ||
XR_922980.1:n.1724G>A | ||
XM_011511593.3:c.*90G>A | XP_011509895.1:n.*90G>A | |
XM_017004641.1:c.*176G>A | XP_016860130.1:n.*176G>A | |
XM_024453036.1:c.*176G>A | XP_024308804.1:n.*176G>A | |
XR_001738882.1:n.1506G>A | ||
XR_922980.2:n.1724G>A | ||
NM_000541.5:c.*90G>A MANE Select | NP_000532.2:n.*90G>A |