HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280284C= , CM000679.2:g.58280284C= | GRCh38 |
NC_000017.10:g.56357645C= , CM000679.1:g.56357645C= | GRCh37 |
NC_000017.9:g.53712644C= | NCBI36 |
NG_009629.1:g.5652G= , LRG_84:g.5652G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225275.4:c.248+82G= MANE Select | ENSP00000225275.3:n.248+82G= | |
ENST00000225275.3:c.248+82G= | ENSP00000225275.3:n.248+82G= | |
ENST00000580005.1:n.259G= | ||
NM_000250.1:c.248+82G= , LRG_84t1:c.248+82G= | NP_000241.1:n.248+82G= | |
XM_011524821.1:c.434+82G= | XP_011523123.1:n.434+82G= | |
XM_011524822.1:c.-37-270G= | XP_011523124.1:n.-37-270G= | |
XM_011524823.1:c.434+82G= | XP_011523125.1:n.434+82G= | |
NM_000250.2:c.248+82G= MANE Select | NP_000241.1:n.248+82G= |