HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130190C>G , CM000663.2:g.160130190C>G | GRCh38 |
NC_000001.10:g.160099980C>G , CM000663.1:g.160099980C>G | GRCh37 |
NC_000001.9:g.158366604C>G | NCBI36 |
NG_008014.1:g.19433C>G , LRG_6:g.19433C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361216.8:c.1550C>G MANE Select | ENSP00000354490.3:p.Thr517Ser | |
ENST00000361216.7:c.1550C>G | ENSP00000354490.3:p.Thr517Ser | |
ENST00000392233.7:c.1550C>G | ENSP00000376066.3:p.Thr517Ser | |
ENST00000447527.1:c.682C>G | ||
ENST00000472488.5:n.1653C>G | ||
NM_000702.3:c.1550C>G | NP_000693.1:p.Thr517Ser | |
NM_000702.4:c.1550C>G MANE Select | NP_000693.1:p.Thr517Ser |