HGVS | Genome Assembly |
---|---|
NC_000008.11:g.119000478C>T , CM000670.2:g.119000478C>T | GRCh38 |
NC_000008.10:g.120012717C>T , CM000670.1:g.120012717C>T | GRCh37 |
NC_000008.9:g.120081898C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521788.1:n.122+4905C>T | ||
XM_005250756.2:c.-60+48100C>T | XP_005250813.1:n.-60+48100C>T | |
NM_001324095.1:c.-323-36958C>T | NP_001311024.1:n.-323-36958C>T | |
XM_005250756.3:c.-60+48100C>T | XP_005250813.1:n.-60+48100C>T | |
NM_001324095.2:c.-323-36958C>T | NP_001311024.1:n.-323-36958C>T |