HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280270T>A , CM000679.2:g.58280270T>A | GRCh38 |
NC_000017.10:g.56357631T>A , CM000679.1:g.56357631T>A | GRCh37 |
NC_000017.9:g.53712630T>A | NCBI36 |
NG_009629.1:g.5666A>T , LRG_84:g.5666A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.248+96A>T MANE Select | ENSP00000225275.3:n.248+96A>T | |
ENST00000225275.3:c.248+96A>T | ENSP00000225275.3:n.248+96A>T | |
ENST00000580005.1:n.259+14A>T | ||
NM_000250.1:c.248+96A>T , LRG_84t1:c.248+96A>T | NP_000241.1:n.248+96A>T | |
XM_011524821.1:c.434+96A>T | XP_011523123.1:n.434+96A>T | |
XM_011524822.1:c.-37-256A>T | XP_011523124.1:n.-37-256A>T | |
XM_011524823.1:c.434+96A>T | XP_011523125.1:n.434+96A>T | |
NM_000250.2:c.248+96A>T MANE Select | NP_000241.1:n.248+96A>T |