HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868815G>A , CM000664.2:g.240868815G>A | GRCh38 |
NC_000002.11:g.241808232G>A , CM000664.1:g.241808232G>A | GRCh37 |
NC_000002.10:g.241456905G>A | NCBI36 |
NG_008005.1:g.5071G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.3:c.-51G>A | ENSP00000302620.3:n.-51G>A | |
NM_000030.2:c.-51G>A | NP_000021.1:n.-51G>A | |
XR_924060.1:n.405+1418C>T |