HGVS | Genome Assembly |
---|---|
NC_000018.10:g.51192069G>C , CM000680.2:g.51192069G>C | GRCh38 |
NC_000018.9:g.48718439G>C , CM000680.1:g.48718439G>C | GRCh37 |
NC_000018.8:g.46972437G>C | NCBI36 |
NG_015801.1:g.10613C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000406189.4:c.754+4498C>G MANE Select | ENSP00000385610.3:n.754+4498C>G | |
ENST00000591040.2:c.-107-14493C>G | ENSP00000502049.1:n.-107-14493C>G | |
ENST00000406189.3:c.754+4498C>G | ENSP00000385610.3:n.754+4498C>G | |
ENST00000591040.1:n.44-14493C>G | ||
ENST00000616921.1:c.244+4498C>G | ENSP00000482566.1:n.244+4498C>G | |
NM_016626.4:c.754+4498C>G | NP_057710.3:n.754+4498C>G | |
NM_016626.5:c.754+4498C>G MANE Select | NP_057710.3:n.754+4498C>G |