HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4372576C>A , CM000674.2:g.4372576C>A | GRCh38 |
NC_000012.11:g.4481742C>A , CM000674.1:g.4481742C>A | GRCh37 |
NC_000012.10:g.4352003C>A | NCBI36 |
NG_007087.1:g.12153G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237837.2:c.315+18G>T MANE Select | ENSP00000237837.1:n.315+18G>T | |
ENST00000648100.1:c.*1967+6294C>A | ENSP00000497536.1:n.*1967+6294C>A | |
ENST00000648269.1:n.1815+18G>T | ||
ENST00000674624.1:c.*1204+6294C>A | ENSP00000501898.1:n.*1204+6294C>A | |
ENST00000237837.1:c.315+18G>T | ENSP00000237837.1:n.315+18G>T | |
NM_020638.2:c.315+18G>T | NP_065689.1:n.315+18G>T | |
NM_020638.3:c.315+18G>T MANE Select | NP_065689.1:n.315+18G>T |