HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022133T= , CM000663.2:g.17022133T= | GRCh38 |
NC_000001.10:g.17348628T= , CM000663.1:g.17348628T= | GRCh37 |
NC_000001.9:g.17221215T= | NCBI36 |
NG_012340.1:g.37038A= , LRG_316:g.37038A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.594+475A= | ENSP00000481376.2:n.594+475A= | |
ENST00000491274.6:c.723+475A= | ENSP00000480482.2:n.723+475A= | |
ENST00000375499.8:c.765+475A= MANE Select | ENSP00000364649.3:n.765+475A= | |
ENST00000375499.7:c.765+475A= | ENSP00000364649.3:n.765+475A= | |
ENST00000475049.5:n.190+475A= | ||
ENST00000485092.5:n.429+475A= | ||
NM_003000.2:c.765+475A= , LRG_316t1:c.765+475A= | NP_002991.2:n.765+475A= | |
NM_003000.3:c.765+475A= MANE Select | NP_002991.2:n.765+475A= |