HGVS | Genome Assembly |
---|---|
NC_000007.14:g.98391899A>T , CM000669.2:g.98391899A>T | GRCh38 |
NC_000007.13:g.98021211A>T , CM000669.1:g.98021211A>T | GRCh37 |
NC_000007.12:g.97859147A>T | NCBI36 |
NG_013090.1:g.14217T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000005260.9:c.51+8903T>A MANE Select | ENSP00000005260.8:n.51+8903T>A | |
ENST00000005260.8:c.51+8903T>A | ENSP00000005260.8:n.51+8903T>A | |
ENST00000462558.5:n.267+8903T>A | ||
ENST00000479789.1:n.357+8082T>A | ||
NM_018842.4:c.51+8903T>A | NP_061330.2:n.51+8903T>A | |
NM_018842.5:c.51+8903T>A MANE Select | NP_061330.2:n.51+8903T>A |