HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17028580A>T , CM000663.2:g.17028580A>T | GRCh38 |
NC_000001.10:g.17355075A>T , CM000663.1:g.17355075A>T | GRCh37 |
NC_000001.9:g.17227662A>T | NCBI36 |
NG_012340.1:g.30591T>A , LRG_316:g.30591T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.252+20T>A | ENSP00000481376.2:n.252+20T>A | |
ENST00000491274.6:c.381+20T>A | ENSP00000480482.2:n.381+20T>A | |
ENST00000375499.8:c.423+20T>A MANE Select | ENSP00000364649.3:n.423+20T>A | |
ENST00000375499.7:c.423+20T>A | ENSP00000364649.3:n.423+20T>A | |
ENST00000463045.2:c.252+20T>A | ENSP00000481376.1:n.252+20T>A | |
ENST00000475506.1:n.340+20T>A | ||
ENST00000485515.5:n.357+74T>A | ||
ENST00000491274.5:c.381+20T>A | ENSP00000480482.1:n.381+20T>A | |
NM_003000.2:c.423+20T>A , LRG_316t1:c.423+20T>A | NP_002991.2:n.423+20T>A | |
NM_003000.3:c.423+20T>A MANE Select | NP_002991.2:n.423+20T>A |