HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4754189G>A , CM000674.2:g.4754189G>A | GRCh38 |
NC_000012.11:g.4863355G>A , CM000674.1:g.4863355G>A | GRCh37 |
NC_000012.10:g.4733616G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252318.7:c.1174-6769G>A MANE Select | ENSP00000252318.2:n.1174-6769G>A | |
ENST00000648836.1:c.964-6769G>A | ENSP00000497305.1:n.964-6769G>A | |
ENST00000648865.1:n.26-6769G>A | ||
ENST00000252318.6:c.1174-6769G>A | ENSP00000252318.2:n.1174-6769G>A | |
NM_017417.1:c.1174-6769G>A | NP_059113.1:n.1174-6769G>A | |
NM_017417.2:c.1174-6769G>A MANE Select | NP_059113.1:n.1174-6769G>A |