HGVS | Genome Assembly |
---|---|
NC_000006.12:g.79855119C>T , CM000668.2:g.79855119C>T | GRCh38 |
NC_000006.11:g.80564836C>T , CM000668.1:g.80564836C>T | GRCh37 |
NC_000006.10:g.80621555C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403623.1:n.436C>T | ||
NM_001243308.1:c.58+15145G>A | NP_001230237.1:n.58+15145G>A | |
XM_011536236.1:c.16+23045G>A | XP_011534538.1:n.16+23045G>A | |
XM_011536237.1:c.16+23045G>A | XP_011534539.1:n.16+23045G>A |