HGVS | Genome Assembly |
---|---|
NC_000008.11:g.119039999T>C , CM000670.2:g.119039999T>C | GRCh38 |
NC_000008.10:g.120052238T>C , CM000670.1:g.120052238T>C | GRCh37 |
NC_000008.9:g.120121419T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521788.1:n.235+30446T>C | ||
XM_005250756.2:c.-59-49681T>C | XP_005250813.1:n.-59-49681T>C | |
XM_011516795.1:c.-60+1849T>C | XP_011515097.1:n.-60+1849T>C | |
NM_001324095.1:c.-60+1849T>C | NP_001311024.1:n.-60+1849T>C | |
XM_005250756.3:c.-59-49681T>C | XP_005250813.1:n.-59-49681T>C | |
NM_001324095.2:c.-60+1849T>C | NP_001311024.1:n.-60+1849T>C |