HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89285036G>C , CM000673.2:g.89285036G>C | GRCh38 |
NC_000011.9:g.89018204G>C , CM000673.1:g.89018204G>C | GRCh37 |
NC_000011.8:g.88657852G>C | NCBI36 |
NG_008748.1:g.112165G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.1366+82G>C MANE Select | ENSP00000263321.4:n.1366+82G>C | |
ENST00000263321.5:c.1366+82G>C | ENSP00000263321.4:n.1366+82G>C | |
ENST00000528243.1:n.364+82G>C | ||
NM_000372.4:c.1366+82G>C | NP_000363.1:n.1366+82G>C | |
XM_011542970.1:c.1366+82G>C | XP_011541272.1:n.1366+82G>C | |
XM_011542970.2:c.1366+82G>C | XP_011541272.1:n.1366+82G>C | |
XR_001748321.1:n.2456+998C>G | ||
XR_001748322.1:n.2457+998C>G | ||
NM_000372.5:c.1366+82G>C MANE Select | NP_000363.1:n.1366+82G>C |