HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102798497A>G , CM000673.2:g.102798497A>G | GRCh38 |
NC_000011.9:g.102669228A>G , CM000673.1:g.102669228A>G | GRCh37 |
NC_000011.8:g.102174438A>G | NCBI36 |
NG_011740.1:g.4739T>C | |
NG_011740.2:g.4739T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371455.7:n.423+375A>G | ||
ENST00000525739.6:n.682+375A>G | ||
ENST00000544704.1:n.443+375A>G | ||
NR_038390.1:n.682+375A>G |