HGVS | Genome Assembly |
---|---|
NC_000008.11:g.119041104C>A , CM000670.2:g.119041104C>A | GRCh38 |
NC_000008.10:g.120053343C>A , CM000670.1:g.120053343C>A | GRCh37 |
NC_000008.9:g.120122524C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521788.1:n.235+31551C>A | ||
XM_005250756.2:c.-59-48576C>A | XP_005250813.1:n.-59-48576C>A | |
XM_011516795.1:c.-60+2954C>A | XP_011515097.1:n.-60+2954C>A | |
NM_001324095.1:c.-60+2954C>A | NP_001311024.1:n.-60+2954C>A | |
XM_005250756.3:c.-59-48576C>A | XP_005250813.1:n.-59-48576C>A | |
NM_001324095.2:c.-60+2954C>A | NP_001311024.1:n.-60+2954C>A |