HGVS | Genome Assembly |
---|---|
NC_000004.12:g.288773G>A , CM000666.2:g.288773G>A | GRCh38 |
NC_000004.11:g.282562G>A , CM000666.1:g.282562G>A | GRCh37 |
NC_000004.10:g.272562G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000419098.6:c.226+6665C>T MANE Select | ENSP00000415774.1:n.226+6665C>T | |
ENST00000419098.5:c.226+6665C>T | ENSP00000415774.1:n.226+6665C>T | |
ENST00000619749.1:c.223+6665C>T | ENSP00000478210.1:n.223+6665C>T | |
NM_001137608.1:c.226+6665C>T | NP_001131080.1:n.226+6665C>T | |
NM_001137608.2:c.226+6665C>T | NP_001131080.1:n.226+6665C>T | |
NM_001137608.3:c.226+6665C>T MANE Select | NP_001131080.1:n.226+6665C>T |