HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6720961C>G , CM000681.2:g.6720961C>G | GRCh38 |
NC_000019.9:g.6720972C>G , CM000681.1:g.6720972C>G | GRCh37 |
NC_000019.8:g.6671972C>G | NCBI36 |
NG_009557.1:g.4691G>C , LRG_27:g.4691G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000600744.1:c.-49-1558G>C | ENSP00000472044.1:n.-49-1558G>C |