HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5227051A>G , CM000673.2:g.5227051A>G | GRCh38 |
NC_000011.9:g.5248281A>G , CM000673.1:g.5248281A>G | GRCh37 |
NC_000011.8:g.5204857A>G | NCBI36 |
NG_000007.3:g.70565T>C | |
NG_059281.1:g.5021T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.-30T>C | ENSP00000494175.1:n.-30T>C | |
ENST00000335295.4:c.-30T>C MANE Select | ENSP00000333994.3:n.-30T>C | |
ENST00000380315.2:c.-18-12T>C | ENSP00000369671.2:n.-18-12T>C | |
ENST00000485743.1:n.22T>C | ||
ENST00000633227.1:c.-30T>C | ENSP00000488004.1:n.-30T>C | |
NM_000518.4:c.-30T>C | NP_000509.1:n.-30T>C | |
NM_000518.5:c.-30T>C MANE Select | NP_000509.1:n.-30T>C |