HGVS | Genome Assembly |
---|---|
NC_000008.11:g.119000527A>C , CM000670.2:g.119000527A>C | GRCh38 |
NC_000008.10:g.120012766A>C , CM000670.1:g.120012766A>C | GRCh37 |
NC_000008.9:g.120081947A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000521788.1:n.122+4954A>C | ||
XM_005250756.2:c.-60+48149A>C | XP_005250813.1:n.-60+48149A>C | |
NM_001324095.1:c.-323-36909A>C | NP_001311024.1:n.-323-36909A>C | |
XM_005250756.3:c.-60+48149A>C | XP_005250813.1:n.-60+48149A>C | |
NM_001324095.2:c.-323-36909A>C | NP_001311024.1:n.-323-36909A>C |