HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17053949T>A , CM000663.2:g.17053949T>A | GRCh38 |
NC_000001.10:g.17380444T>A , CM000663.1:g.17380444T>A | GRCh37 |
NC_000001.9:g.17253031T>A | NCBI36 |
NG_012340.1:g.5222A>T , LRG_316:g.5222A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375499.8:c.71A>T MANE Select | ENSP00000364649.3:p.Gln24Leu | |
ENST00000375499.7:c.71A>T | ENSP00000364649.3:p.Gln24Leu | |
ENST00000466613.2:n.83A>T | ||
ENST00000485515.5:n.59A>T | ||
NM_003000.2:c.71A>T , LRG_316t1:c.71A>T | NP_002991.2:p.Gln24Leu | |
NM_003000.3:c.71A>T MANE Select | NP_002991.2:p.Gln24Leu |