HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19797667C>T , CM000684.2:g.19797667C>T | GRCh38 |
NC_000022.10:g.19785190C>T , CM000684.1:g.19785190C>T | GRCh37 |
NC_000022.9:g.18165190C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329517.11:c.732+4334G>A MANE Select | ENSP00000331313.6:n.732+4334G>A | |
ENST00000329517.10:c.732+4334G>A | ENSP00000331313.6:n.732+4334G>A | |
ENST00000403325.5:c.732+4334G>A | ENSP00000385154.1:n.732+4334G>A | |
ENST00000405009.5:c.630+4436G>A | ENSP00000384626.1:n.630+4436G>A | |
ENST00000460402.5:n.700+4334G>A | ||
NM_053004.2:c.732+4334G>A | NP_443730.1:n.732+4334G>A | |
NM_053004.3:c.732+4334G>A MANE Select | NP_443730.1:n.732+4334G>A |