HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29590712C>G , CM000679.2:g.29590712C>G | GRCh38 |
NC_000017.10:g.27917730C>G , CM000679.1:g.27917730C>G | GRCh37 |
NC_000017.9:g.24941856C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000487527.5:n.80+850C>G (ANKRD13B) | ||
ENST00000583413.4:c.88+3230G>C (GIT1) | ENSP00000466824.1:n.88+3230G>C | |
ENST00000583728.5:c.-283+850C>G (ANKRD13B) | ENSP00000467078.1:n.-283+850C>G | |
XM_017024174.2:c.-283+850C>G (ANKRD13B) | XP_016879663.1:n.-283+850C>G |