HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022419A= , CM000663.2:g.17022419A= | GRCh38 |
NC_000001.10:g.17348914A= , CM000663.1:g.17348914A= | GRCh37 |
NC_000001.9:g.17221501A= | NCBI36 |
NG_012340.1:g.36752T= , LRG_316:g.36752T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.594+189T= | ENSP00000481376.2:n.594+189T= | |
ENST00000491274.6:c.723+189T= | ENSP00000480482.2:n.723+189T= | |
ENST00000375499.8:c.765+189T= MANE Select | ENSP00000364649.3:n.765+189T= | |
ENST00000375499.7:c.765+189T= | ENSP00000364649.3:n.765+189T= | |
ENST00000475049.5:n.190+189T= | ||
ENST00000485092.5:n.429+189T= | ||
NM_003000.2:c.765+189T= , LRG_316t1:c.765+189T= | NP_002991.2:n.765+189T= | |
NM_003000.3:c.765+189T= MANE Select | NP_002991.2:n.765+189T= |