HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216148178A>G , CM000664.2:g.216148178A>G | GRCh38 |
NC_000002.11:g.217012901A>G , CM000664.1:g.217012901A>G | GRCh37 |
NC_000002.10:g.216721146A>G | NCBI36 |
NG_029780.1:g.43882A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392132.7:c.1572A>G MANE Select | ENSP00000375977.2:p.Thr524= | |
ENST00000392132.6:c.1572A>G | ENSP00000375977.2:p.Thr524= | |
ENST00000392133.7:c.1572A>G | ENSP00000375978.3:p.Thr524= | |
ENST00000460284.5:n.2114A>G | ||
NM_021141.3:c.1572A>G | NP_066964.1:p.Thr524= | |
NM_021141.4:c.1572A>G MANE Select | NP_066964.1:p.Thr524= |