HGVS | Genome Assembly |
---|---|
NC_000011.10:g.113979418G>A , CM000673.2:g.113979418G>A | GRCh38 |
NC_000011.9:g.113850140G>A , CM000673.1:g.113850140G>A | GRCh37 |
NC_000011.8:g.113355350G>A | NCBI36 |
NG_013058.1:g.9344G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000504030.7:c.264+141G>A MANE Select | ENSP00000424189.2:n.264+141G>A | |
ENST00000299961.5:c.219+141G>A | ENSP00000299961.4:n.219+141G>A | |
ENST00000355556.6:c.282+141G>A | ENSP00000347754.2:n.282+141G>A | |
ENST00000375498.6:c.282+141G>A | ENSP00000364648.2:n.282+141G>A | |
ENST00000504030.6:c.264+141G>A | ENSP00000424189.2:n.264+141G>A | |
ENST00000506841.6:c.264+141G>A | ENSP00000424776.2:n.264+141G>A | |
ENST00000510849.5:c.264+141G>A | ENSP00000423653.1:n.264+141G>A | |
NM_000869.5:c.282+141G>A | NP_000860.2:n.282+141G>A | |
NM_001161772.2:c.219+141G>A | NP_001155244.1:n.219+141G>A | |
NM_213621.3:c.282+141G>A | NP_998786.2:n.282+141G>A | |
NR_046363.1:n.515+141G>A | ||
NM_000869.6:c.264+141G>A MANE Select | NP_000860.3:n.264+141G>A | |
NM_213621.4:c.264+141G>A | NP_998786.3:n.264+141G>A | |
NM_001161772.3:c.219+141G>A | NP_001155244.1:n.219+141G>A | |
NR_046363.2:n.482+141G>A |