HGVS | Genome Assembly |
---|---|
NC_000019.10:g.44949443G>T , CM000681.2:g.44949443G>T | GRCh38 |
NC_000019.9:g.45452700G>T , CM000681.1:g.45452700G>T | GRCh37 |
NC_000019.8:g.50144540G>T | NCBI36 |
NG_008837.1:g.8458G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252490.7:c.*194G>T (APOC2) MANE Select | ENSP00000252490.5:n.*194G>T | |
ENST00000252490.5:c.*194G>T (APOC4-APOC2) | ENSP00000252490.4:n.*194G>T | |
ENST00000585685.5:c.*1283G>T (APOC4-APOC2) | ENSP00000467185.1:n.*1283G>T | |
ENST00000590360.2:c.*194G>T (APOC2) | ENSP00000466775.1:n.*194G>T | |
NM_000483.4:c.*194G>T (APOC2) | NP_000474.2:n.*194G>T | |
NR_037932.1:n.1707G>T (APOC4-APOC2) | ||
NM_000483.5:c.*194G>T (APOC2) MANE Select | NP_000474.2:n.*194G>T |