HGVS | Genome Assembly |
---|---|
NC_000006.12:g.55180249C>A , CM000668.2:g.55180249C>A | GRCh38 |
NC_000006.11:g.55045047C>A , CM000668.1:g.55045047C>A | GRCh37 |
NC_000006.10:g.55153006C>A | NCBI36 |
NG_012447.1:g.10977C>A | |
NG_012447.2:g.78790C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370862.4:c.223+5439C>A MANE Select | ENSP00000359899.3:n.223+5439C>A | |
ENST00000370862.3:c.223+5439C>A | ENSP00000359899.3:n.223+5439C>A | |
ENST00000615358.4:c.223+5439C>A | ENSP00000477548.1:n.223+5439C>A | |
NM_001526.3:c.223+5439C>A | NP_001517.2:n.223+5439C>A | |
NM_001526.4:c.223+5439C>A | NP_001517.2:n.223+5439C>A | |
XM_017010798.1:c.223+5439C>A | XP_016866287.1:n.223+5439C>A | |
NM_001384272.1:c.223+5439C>A MANE Select | NP_001371201.1:n.223+5439C>A | |
NM_001526.5:c.223+5439C>A | NP_001517.2:n.223+5439C>A |