HGVS | Genome Assembly |
---|---|
NC_000005.10:g.34008141C>T , CM000667.2:g.34008141C>T | GRCh38 |
NC_000005.9:g.34008246C>T , CM000667.1:g.34008246C>T | GRCh37 |
NC_000005.8:g.34044003C>T | NCBI36 |
NG_016211.1:g.4975G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382079.3:c.690-2242G>A | ENSP00000371511.3:n.690-2242G>A | |
NR_037951.1:n.765-2242G>A |