HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118111842T>C , CM000670.2:g.118111842T>C | GRCh38 |
NC_000008.10:g.119124081T>C , CM000670.1:g.119124081T>C | GRCh37 |
NC_000008.9:g.119193262T>C | NCBI36 |
NG_007455.2:g.4978A>G , LRG_493:g.4978A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378204.6:c.-796A>G | ENSP00000367446.2:n.-796A>G |