HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24491185C>T , CM000668.2:g.24491185C>T | GRCh38 |
NC_000006.11:g.24491413C>T , CM000668.1:g.24491413C>T | GRCh37 |
NC_000006.10:g.24599392C>T | NCBI36 |
NG_008161.1:g.1217C>T | |
NG_029888.2:g.3438G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000474784.5:n.240-1688G>A | ||
ENST00000475417.1:n.234-1688G>A | ||
XM_011514509.1:c.45-1688G>A | XP_011512811.1:n.45-1688G>A | |
XM_017010753.2:c.45-1688G>A | XP_016866242.1:n.45-1688G>A | |
XR_002956277.1:n.267-1688G>A |