HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713284C>G , CM000681.2:g.6713284C>G | GRCh38 |
NC_000019.9:g.6713295C>G , CM000681.1:g.6713295C>G | GRCh37 |
NC_000019.8:g.6664295C>G | NCBI36 |
NG_009557.1:g.12368G>C , LRG_27:g.12368G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.785G>C | ENSP00000512083.1:p.Ser262Thr | |
ENST00000695654.1:c.32G>C | ENSP00000512085.1:p.Ser11Thr | |
ENST00000695692.1:n.232G>C | ||
ENST00000245907.11:c.908G>C MANE Select | ENSP00000245907.4:p.Ser303Thr | |
ENST00000245907.10:c.908G>C | ENSP00000245907.4:p.Ser303Thr | |
ENST00000594270.5:n.32G>C | ||
ENST00000595577.1:n.412G>C | ||
ENST00000597442.5:n.158G>C | ||
NM_000064.3:c.908G>C | NP_000055.2:p.Ser303Thr | |
NM_000064.4:c.908G>C MANE Select | NP_000055.2:p.Ser303Thr |