HGVS | Genome Assembly |
---|---|
NC_000020.11:g.31820002G>A , CM000682.2:g.31820002G>A | GRCh38 |
NC_000020.10:g.30407805G>A , CM000682.1:g.30407805G>A | GRCh37 |
NC_000020.9:g.29871466G>A | NCBI36 |
NG_012847.1:g.5628G>A , LRG_392:g.5628G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375985.5:c.53-124G>A MANE Select | ENSP00000365152.4:n.53-124G>A | |
ENST00000375985.4:c.53-124G>A | ENSP00000365152.4:n.53-124G>A | |
ENST00000375994.6:c.53-124G>A | ENSP00000365162.2:n.53-124G>A | |
NM_033118.3:c.53-124G>A , LRG_392t1:c.53-124G>A | NP_149109.1:n.53-124G>A | |
XR_244155.1:n.218-124G>A | ||
NM_033118.4:c.53-124G>A MANE Select | NP_149109.1:n.53-124G>A |