HGVS | Genome Assembly |
---|---|
NC_000001.11:g.71605564C>G , CM000663.2:g.71605564C>G | GRCh38 |
NC_000001.10:g.72071247C>G , CM000663.1:g.72071247C>G | GRCh37 |
NC_000001.9:g.71843835C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000357731.10:c.788+5462G>C MANE Select | ENSP00000350364.4:n.788+5462G>C | |
ENST00000306821.3:c.404+5462G>C | ENSP00000305938.3:n.404+5462G>C | |
ENST00000357731.9:c.788+5462G>C | ENSP00000350364.4:n.788+5462G>C | |
ENST00000434200.5:c.623+5462G>C | ENSP00000413294.2:n.623+5462G>C | |
NM_173808.2:c.788+5462G>C | NP_776169.2:n.788+5462G>C | |
XM_011541200.1:c.788+5462G>C | XP_011539502.1:n.788+5462G>C | |
XM_011541200.3:c.788+5462G>C | XP_011539502.1:n.788+5462G>C | |
NM_173808.3:c.788+5462G>C MANE Select | NP_776169.2:n.788+5462G>C |