HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19797394A>G , CM000684.2:g.19797394A>G | GRCh38 |
NC_000022.10:g.19784917A>G , CM000684.1:g.19784917A>G | GRCh37 |
NC_000022.9:g.18164917A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329517.11:c.732+4607T>C MANE Select | ENSP00000331313.6:n.732+4607T>C | |
ENST00000329517.10:c.732+4607T>C | ENSP00000331313.6:n.732+4607T>C | |
ENST00000403325.5:c.732+4607T>C | ENSP00000385154.1:n.732+4607T>C | |
ENST00000405009.5:c.630+4709T>C | ENSP00000384626.1:n.630+4709T>C | |
ENST00000460402.5:n.700+4607T>C | ||
NM_053004.2:c.732+4607T>C | NP_443730.1:n.732+4607T>C | |
NM_053004.3:c.732+4607T>C MANE Select | NP_443730.1:n.732+4607T>C |