HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111071909C>A , CM000667.2:g.111071909C>A | GRCh38 |
NC_000005.9:g.110407607C>A , CM000667.1:g.110407607C>A | GRCh37 |
NC_000005.8:g.110435506C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344895.4:c.19C>A MANE Select | ENSP00000339804.3:p.Leu7Ile | |
ENST00000344895.3:c.19C>A | ENSP00000339804.3:p.Leu7Ile | |
ENST00000420978.6:c.35-16C>A | ENSP00000399099.2:n.35-16C>A | |
NM_033035.4:c.19C>A | NP_149024.1:p.Leu7Ile | |
NR_045089.1:n.1439-16C>A | ||
NM_033035.5:c.19C>A MANE Select | NP_149024.1:p.Leu7Ile | |
NR_045089.2:n.1457-16C>A |