HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15930687G>A , CM000663.2:g.15930687G>A | GRCh38 |
NC_000001.10:g.16257182G>A , CM000663.1:g.16257182G>A | GRCh37 |
NC_000001.9:g.16129769G>A | NCBI36 |
NG_050663.1:g.87824G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438066.2:c.*5298G>A | ENSP00000388021.2:n.*5298G>A | |
ENST00000704274.1:c.44G>A | ||
ENST00000375759.8:c.4447G>A MANE Select | ENSP00000364912.3:p.Val1483Ile | |
ENST00000375759.7:c.4447G>A | ENSP00000364912.3:p.Val1483Ile | |
NM_015001.2:c.4447G>A | NP_055816.2:p.Val1483Ile | |
NM_015001.3:c.4447G>A MANE Select | NP_055816.2:p.Val1483Ile |