HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116786845C>T , CM000673.2:g.116786845C>T | GRCh38 |
NC_000011.9:g.116657561C>T , CM000673.1:g.116657561C>T | GRCh37 |
NC_000011.8:g.116162771C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227322.8:c.424+124G>A MANE Select | ENSP00000227322.3:n.424+124G>A | |
ENST00000227322.7:c.424+124G>A | ENSP00000227322.3:n.424+124G>A | |
ENST00000425791.1:c.*246+124G>A | ENSP00000410141.1:n.*246+124G>A | |
ENST00000429220.5:c.251+124G>A | ||
ENST00000431973.5:c.291+124G>A | ||
ENST00000444935.5:c.423+124G>A | ||
ENST00000498065.1:n.368+124G>A | ||
NM_003904.3:c.424+124G>A | NP_003895.1:n.424+124G>A | |
NM_001317086.1:c.262+124G>A | NP_001304015.1:n.262+124G>A | |
NM_003904.4:c.424+124G>A | NP_003895.1:n.424+124G>A | |
XR_001748023.2:n.1706+124G>A | ||
NM_003904.5:c.424+124G>A MANE Select | NP_003895.1:n.424+124G>A | |
NM_001317086.2:c.262+124G>A | NP_001304015.1:n.262+124G>A |