HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89285085T>C , CM000673.2:g.89285085T>C | GRCh38 |
NC_000011.9:g.89018253T>C , CM000673.1:g.89018253T>C | GRCh37 |
NC_000011.8:g.88657901T>C | NCBI36 |
NG_008748.1:g.112214T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.1366+131T>C MANE Select | ENSP00000263321.4:n.1366+131T>C | |
ENST00000263321.5:c.1366+131T>C | ENSP00000263321.4:n.1366+131T>C | |
ENST00000528243.1:n.364+131T>C | ||
NM_000372.4:c.1366+131T>C | NP_000363.1:n.1366+131T>C | |
XM_011542970.1:c.1366+131T>C | XP_011541272.1:n.1366+131T>C | |
XM_011542970.2:c.1366+131T>C | XP_011541272.1:n.1366+131T>C | |
XR_001748321.1:n.2456+949A>G | ||
XR_001748322.1:n.2457+949A>G | ||
NM_000372.5:c.1366+131T>C MANE Select | NP_000363.1:n.1366+131T>C |