HGVS | Genome Assembly |
---|---|
NC_000018.10:g.49936250A>T , CM000680.2:g.49936250A>T | GRCh38 |
NC_000018.9:g.47462620A>T , CM000680.1:g.47462620A>T | GRCh37 |
NC_000018.8:g.45716618A>T | NCBI36 |
NG_012925.1:g.263832T>A | |
NG_012925.2:g.263832T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697219.1:c.1800+2T>A | ||
ENST00000285039.12:c.2003+2T>A MANE Select | ENSP00000285039.6:n.2003+2T>A | |
ENST00000285039.11:c.2003+2T>A | ENSP00000285039.6:n.2003+2T>A | |
ENST00000616031.4:c.1906+96T>A | ENSP00000479038.1:n.1906+96T>A | |
NM_001080467.2:c.2003+2T>A | NP_001073936.1:n.2003+2T>A | |
NM_001080467.3:c.2003+2T>A MANE Select | NP_001073936.1:n.2003+2T>A |