HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022635G= , CM000663.2:g.17022635G= | GRCh38 |
NC_000001.10:g.17349130G= , CM000663.1:g.17349130G= | GRCh37 |
NC_000001.9:g.17221717G= | NCBI36 |
NG_012340.1:g.36536C= , LRG_316:g.36536C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.567C= | ENSP00000481376.2:p.Ile189= | |
ENST00000491274.6:c.696C= | ENSP00000480482.2:p.Ile232= | |
ENST00000375499.8:c.738C= MANE Select | ENSP00000364649.3:p.Ile246= | |
ENST00000375499.7:c.738C= | ENSP00000364649.3:p.Ile246= | |
ENST00000475049.5:n.163C= | ||
ENST00000485092.5:n.402C= | ||
ENST00000485515.5:n.672C= | ||
NM_003000.2:c.738C= , LRG_316t1:c.738C= | NP_002991.2:p.Ile246= | |
NM_003000.3:c.738C= MANE Select | NP_002991.2:p.Ile246= |