HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280283C>T , CM000679.2:g.58280283C>T | GRCh38 |
NC_000017.10:g.56357644C>T , CM000679.1:g.56357644C>T | GRCh37 |
NC_000017.9:g.53712643C>T | NCBI36 |
NG_009629.1:g.5653G>A , LRG_84:g.5653G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.248+83G>A MANE Select | ENSP00000225275.3:n.248+83G>A | |
ENST00000225275.3:c.248+83G>A | ENSP00000225275.3:n.248+83G>A | |
ENST00000580005.1:n.259+1G>A | ||
NM_000250.1:c.248+83G>A , LRG_84t1:c.248+83G>A | NP_000241.1:n.248+83G>A | |
XM_011524821.1:c.434+83G>A | XP_011523123.1:n.434+83G>A | |
XM_011524822.1:c.-37-269G>A | XP_011523124.1:n.-37-269G>A | |
XM_011524823.1:c.434+83G>A | XP_011523125.1:n.434+83G>A | |
NM_000250.2:c.248+83G>A MANE Select | NP_000241.1:n.248+83G>A |