HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19797280T>C , CM000684.2:g.19797280T>C | GRCh38 |
NC_000022.10:g.19784803T>C , CM000684.1:g.19784803T>C | GRCh37 |
NC_000022.9:g.18164803T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329517.11:c.732+4721A>G MANE Select | ENSP00000331313.6:n.732+4721A>G | |
ENST00000329517.10:c.732+4721A>G | ENSP00000331313.6:n.732+4721A>G | |
ENST00000403325.5:c.732+4721A>G | ENSP00000385154.1:n.732+4721A>G | |
ENST00000405009.5:c.630+4823A>G | ENSP00000384626.1:n.630+4823A>G | |
ENST00000460402.5:n.700+4721A>G | ||
NM_053004.2:c.732+4721A>G | NP_443730.1:n.732+4721A>G | |
NM_053004.3:c.732+4721A>G MANE Select | NP_443730.1:n.732+4721A>G |