HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280357G= , CM000679.2:g.58280357G= | GRCh38 |
NC_000017.10:g.56357718G= , CM000679.1:g.56357718G= | GRCh37 |
NC_000017.9:g.53712717G= | NCBI36 |
NG_009629.1:g.5579C= , LRG_84:g.5579C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.248+9C= MANE Select | ENSP00000225275.3:n.248+9C= | |
ENST00000225275.3:c.248+9C= | ENSP00000225275.3:n.248+9C= | |
ENST00000580005.1:n.186C= | ||
NM_000250.1:c.248+9C= , LRG_84t1:c.248+9C= | NP_000241.1:n.248+9C= | |
XM_011524821.1:c.434+9C= | XP_011523123.1:n.434+9C= | |
XM_011524822.1:c.-38+248C= | XP_011523124.1:n.-38+248C= | |
XM_011524823.1:c.434+9C= | XP_011523125.1:n.434+9C= | |
NM_000250.2:c.248+9C= MANE Select | NP_000241.1:n.248+9C= |