HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218812605C>T , CM000664.2:g.218812605C>T | GRCh38 |
NC_000002.11:g.219677328C>T , CM000664.1:g.219677328C>T | GRCh37 |
NC_000002.10:g.219385572C>T | NCBI36 |
NG_007959.1:g.35857C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.700C>T MANE Select | ENSP00000258415.4:p.Pro234Ser | |
ENST00000258415.8:c.700C>T | ENSP00000258415.4:p.Pro234Ser | |
ENST00000411688.1:c.418C>T | ENSP00000392671.1:p.Pro140Ser | |
ENST00000445971.1:c.*161C>T | ENSP00000404945.1:n.*161C>T | |
ENST00000466602.1:n.648C>T | ||
ENST00000494263.5:n.1134C>T | ||
NM_000784.3:c.700C>T | NP_000775.1:p.Pro234Ser | |
XM_017003488.2:c.280C>T | XP_016858977.1:p.Pro94Ser | |
NM_000784.4:c.700C>T MANE Select | NP_000775.1:p.Pro234Ser |