HGVS | Genome Assembly |
---|---|
NC_000008.11:g.40005364G>T , CM000670.2:g.40005364G>T | GRCh38 |
NC_000008.10:g.39862883G>T , CM000670.1:g.39862883G>T | GRCh37 |
NC_000008.9:g.39982040G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000502986.4:c.705G>T MANE Select | ENSP00000443432.2:p.Arg235= | |
ENST00000502986.3:c.705G>T | ENSP00000443432.2:p.Arg235= | |
ENST00000343295.8:n.2971-8201G>T | ||
ENST00000389060.8:c.705G>T | ENSP00000426447.1:p.Arg235= | |
ENST00000418094.1:n.347-8201G>T | ||
ENST00000502986.2:c.744G>T | ENSP00000443432.1:p.Arg248= | |
NM_194294.2:c.744G>T | NP_919270.2:p.Arg248= | |
NM_194294.3:c.744G>T | NP_919270.2:p.Arg248= | |
NM_001395206.1:c.705G>T | NP_001382135.1:p.Arg235= | |
NM_194294.5:c.705G>T MANE Select | NP_919270.3:p.Arg235= |