HGVS | Genome Assembly |
---|---|
NC_000023.11:g.43949683C>A , CM000685.2:g.43949683C>A | GRCh38 |
NC_000023.10:g.43808929C>A , CM000685.1:g.43808929C>A | GRCh37 |
NC_000023.9:g.43693873C>A | NCBI36 |
NG_009832.1:g.28993G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000642620.1:c.*116G>T MANE Select | ENSP00000495972.1:n.*116G>T | |
ENST00000647044.1:c.*116G>T | ENSP00000495811.1:n.*116G>T | |
ENST00000378062.5:c.*116G>T | ENSP00000367301.5:n.*116G>T | |
ENST00000470584.1:n.562G>T | ||
NM_000266.3:c.*116G>T | NP_000257.1:n.*116G>T | |
NM_000266.4:c.*116G>T MANE Select | NP_000257.1:n.*116G>T |