HGVS | Genome Assembly |
---|---|
NC_000020.11:g.31820015G>T , CM000682.2:g.31820015G>T | GRCh38 |
NC_000020.10:g.30407818G>T , CM000682.1:g.30407818G>T | GRCh37 |
NC_000020.9:g.29871479G>T | NCBI36 |
NG_012847.1:g.5641G>T , LRG_392:g.5641G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375985.5:c.53-111G>T MANE Select | ENSP00000365152.4:n.53-111G>T | |
ENST00000375985.4:c.53-111G>T | ENSP00000365152.4:n.53-111G>T | |
ENST00000375994.6:c.53-111G>T | ENSP00000365162.2:n.53-111G>T | |
NM_033118.3:c.53-111G>T , LRG_392t1:c.53-111G>T | NP_149109.1:n.53-111G>T | |
XR_244155.1:n.218-111G>T | ||
NM_033118.4:c.53-111G>T MANE Select | NP_149109.1:n.53-111G>T |