HGVS | Genome Assembly |
---|---|
NC_000007.14:g.27165663A>G , CM000669.2:g.27165663A>G | GRCh38 |
NC_000007.13:g.27205282A>G , CM000669.1:g.27205282A>G | GRCh37 |
NC_000007.12:g.27171807A>G | NCBI36 |
NG_029923.1:g.4868T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000465941.1:n.480-1822T>C | ||
ENST00000470747.4:c.11-696T>C | ENSP00000421799.3:n.11-696T>C | |
ENST00000487384.5:n.69-696T>C | ||
ENST00000489695.1:n.272-696T>C | ||
ENST00000497089.1:n.152-1822T>C | ||
NR_037940.1:n.617-696T>C |