HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4372639G>A , CM000674.2:g.4372639G>A | GRCh38 |
NC_000012.11:g.4481805G>A , CM000674.1:g.4481805G>A | GRCh37 |
NC_000012.10:g.4352066G>A | NCBI36 |
NG_007087.1:g.12090C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000237837.2:c.270C>T MANE Select | ENSP00000237837.1:p.Ser90= | |
ENST00000648100.1:c.*1967+6357G>A | ENSP00000497536.1:n.*1967+6357G>A | |
ENST00000648269.1:n.1770C>T | ||
ENST00000674624.1:c.*1204+6357G>A | ENSP00000501898.1:n.*1204+6357G>A | |
ENST00000237837.1:c.270C>T | ENSP00000237837.1:p.Ser90= | |
NM_020638.2:c.270C>T | NP_065689.1:p.Ser90= | |
NM_020638.3:c.270C>T MANE Select | NP_065689.1:p.Ser90= |