HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131851244T>G , CM000668.2:g.131851244T>G | GRCh38 |
NC_000006.11:g.132172384T>G , CM000668.1:g.132172384T>G | GRCh37 |
NC_000006.10:g.132214077T>G | NCBI36 |
NG_008206.1:g.48229T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647893.1:c.533T>G MANE Select | ENSP00000498074.1:p.Ile178Ser | |
ENST00000650147.1:c.211T>G | ||
ENST00000650437.1:c.108+1138T>G | ||
ENST00000360971.6:c.533T>G | ENSP00000354238.2:p.Ile178Ser | |
ENST00000486853.1:n.553T>G | ||
ENST00000513998.5:c.533T>G | ENSP00000422424.1:p.Ile178Ser | |
NM_006208.2:c.533T>G | NP_006199.2:p.Ile178Ser | |
NM_006208.3:c.533T>G MANE Select | NP_006199.2:p.Ile178Ser |