HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101605720T>A , CM000671.2:g.101605720T>A | GRCh38 |
NC_000009.11:g.104368002T>A , CM000671.1:g.104368002T>A | GRCh37 |
NC_000009.10:g.103407823T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361820.6:c.2766+7656A>T MANE Select | ENSP00000355155.3:n.2766+7656A>T | |
ENST00000361820.3:c.2766+7656A>T | ENSP00000355155.3:n.2766+7656A>T | |
ENST00000479772.1:n.148-2686A>T | ||
NM_133445.2:c.2766+7656A>T | NP_597702.2:n.2766+7656A>T | |
XM_011518212.1:c.2767-2686A>T | XP_011516514.1:n.2767-2686A>T | |
XR_929711.1:n.3164-2686A>T | ||
NM_133445.3:c.2766+7656A>T MANE Select | NP_597702.2:n.2766+7656A>T |