HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21817050G>A , CM000669.2:g.21817050G>A | GRCh38 |
NC_000007.13:g.21856668G>A , CM000669.1:g.21856668G>A | GRCh37 |
NC_000007.12:g.21823193G>A | NCBI36 |
NG_012886.2:g.278836G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.10568+348G>A MANE Select | ENSP00000475939.1:n.10568+348G>A | |
ENST00000328843.10:c.10589+348G>A | ENSP00000330671.7:n.10589+348G>A | |
ENST00000409508.7:c.10568+348G>A | ENSP00000475939.1:n.10568+348G>A | |
ENST00000620169.4:c.10589+348G>A | ENSP00000481693.1:n.10589+348G>A | |
NM_001277115.1:c.10568+348G>A | NP_001264044.1:n.10568+348G>A | |
NM_001277115.2:c.10568+348G>A MANE Select | NP_001264044.1:n.10568+348G>A |