Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29590706T>A , CM000679.2:g.29590706T>A | GRCh38 |
| NC_000017.10:g.27917724T>A , CM000679.1:g.27917724T>A | GRCh37 |
| NC_000017.9:g.24941850T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487527.5:n.80+844T>A (ANKRD13B) | ||
| ENST00000583413.4:c.88+3236A>T (GIT1) | ENSP00000466824.1:n.88+3236A>T | |
| ENST00000583728.5:c.-283+844T>A (ANKRD13B) | ENSP00000467078.1:n.-283+844T>A | |
| XM_017024174.2:c.-283+844T>A (ANKRD13B) | XP_016879663.1:n.-283+844T>A |