HGVS | Genome Assembly |
---|---|
NC_000008.11:g.119000484C= , CM000670.2:g.119000484C= | GRCh38 |
NC_000008.10:g.120012723C= , CM000670.1:g.120012723C= | GRCh37 |
NC_000008.9:g.120081904C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521788.1:n.122+4911C= | ||
XM_005250756.2:c.-60+48106C= | XP_005250813.1:n.-60+48106C= | |
NM_001324095.1:c.-323-36952C= | NP_001311024.1:n.-323-36952C= | |
XM_005250756.3:c.-60+48106C= | XP_005250813.1:n.-60+48106C= | |
NM_001324095.2:c.-323-36952C= | NP_001311024.1:n.-323-36952C= |