HGVS | Genome Assembly |
---|---|
NC_000022.11:g.41381096G>T , CM000684.2:g.41381096G>T | GRCh38 |
NC_000022.10:g.41777100G>T , CM000684.1:g.41777100G>T | GRCh37 |
NC_000022.9:g.40107046G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000406644.7:c.68-6255G>T | ENSP00000385256.3:n.68-6255G>T | |
NM_001145398.2:c.68-6255G>T | NP_001138870.1:n.68-6255G>T | |
XR_938271.1:n.103+644C>A | ||
XR_938271.2:n.95+644C>A | ||
NM_001145398.3:c.68-6255G>T | NP_001138870.1:n.68-6255G>T |