HGVS | Genome Assembly |
---|---|
NC_000023.11:g.108084673C>A , CM000685.2:g.108084673C>A | GRCh38 |
NC_000023.10:g.107327903C>A , CM000685.1:g.107327903C>A | GRCh37 |
NC_000023.9:g.107214559C>A | NCBI36 |
NG_012521.1:g.11946G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217958.8:c.*301G>T MANE Select | ENSP00000217958.3:n.*301G>T | |
ENST00000217958.7:c.*301G>T | ENSP00000217958.3:n.*301G>T | |
ENST00000372296.5:c.*447G>T | ENSP00000361370.1:n.*447G>T | |
NM_002814.3:c.*301G>T | NP_002805.1:n.*301G>T | |
NM_170750.2:c.*447G>T | NP_736606.1:n.*447G>T | |
NM_002814.4:c.*301G>T MANE Select | NP_002805.1:n.*301G>T | |
NM_170750.3:c.*447G>T | NP_736606.1:n.*447G>T |