HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31524590C>A , CM000680.2:g.31524590C>A | GRCh38 |
NC_000018.9:g.29104553C>A , CM000680.1:g.29104553C>A | GRCh37 |
NC_000018.8:g.27358551C>A | NCBI36 |
NG_007072.3:g.31349C>A , LRG_397:g.31349C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682087.2:n.659+5C>A | ||
ENST00000683614.2:n.659+5C>A | ||
ENST00000682087.1:c.659+5C>A | ||
ENST00000683614.1:c.659+5C>A | ||
ENST00000261590.13:c.828+5C>A MANE Select | ENSP00000261590.8:n.828+5C>A | |
ENST00000261590.12:c.828+5C>A | ENSP00000261590.8:n.828+5C>A | |
NM_001943.3:c.828+5C>A , LRG_397t1:c.828+5C>A | NP_001934.2:n.828+5C>A | |
NM_001943.4:c.828+5C>A | NP_001934.2:n.828+5C>A | |
XM_024451095.1:c.294+5C>A | XP_024306863.1:n.294+5C>A | |
NM_001943.5:c.828+5C>A MANE Select | NP_001934.2:n.828+5C>A |