HGVS | Genome Assembly |
---|---|
NC_000004.12:g.71785007A>T , CM000666.2:g.71785007A>T | GRCh38 |
NC_000004.11:g.72650724A>T , CM000666.1:g.72650724A>T | GRCh37 |
NC_000004.10:g.72869588A>T | NCBI36 |
NG_012837.2:g.25514T>A | |
NG_012837.3:g.25514T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000504199.5:c.22-953T>A | ENSP00000421725.1:n.22-953T>A | |
ENST00000506245.1:c.-37+913T>A | ENSP00000426718.1:n.-37+913T>A | |
NM_001204306.1:c.-36-953T>A | NP_001191235.1:n.-36-953T>A | |
NM_001204307.1:c.22-953T>A | NP_001191236.1:n.22-953T>A |