HGVS | Genome Assembly |
---|---|
NC_000005.10:g.34008137A>C , CM000667.2:g.34008137A>C | GRCh38 |
NC_000005.9:g.34008242A>C , CM000667.1:g.34008242A>C | GRCh37 |
NC_000005.8:g.34043999A>C | NCBI36 |
NG_016211.1:g.4979T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382079.3:c.690-2238T>G | ENSP00000371511.3:n.690-2238T>G | |
NR_037951.1:n.765-2238T>G |