HGVS | Genome Assembly |
---|---|
NC_000007.14:g.98391948A>G , CM000669.2:g.98391948A>G | GRCh38 |
NC_000007.13:g.98021260A>G , CM000669.1:g.98021260A>G | GRCh37 |
NC_000007.12:g.97859196A>G | NCBI36 |
NG_013090.1:g.14168T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000005260.9:c.51+8854T>C MANE Select | ENSP00000005260.8:n.51+8854T>C | |
ENST00000005260.8:c.51+8854T>C | ENSP00000005260.8:n.51+8854T>C | |
ENST00000462558.5:n.267+8854T>C | ||
ENST00000479789.1:n.357+8033T>C | ||
NM_018842.4:c.51+8854T>C | NP_061330.2:n.51+8854T>C | |
NM_018842.5:c.51+8854T>C MANE Select | NP_061330.2:n.51+8854T>C |