Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29590724A>T , CM000679.2:g.29590724A>T | GRCh38 |
| NC_000017.10:g.27917742A>T , CM000679.1:g.27917742A>T | GRCh37 |
| NC_000017.9:g.24941868A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487527.5:n.80+862A>T (ANKRD13B) | ||
| ENST00000583413.4:c.88+3218T>A (GIT1) | ENSP00000466824.1:n.88+3218T>A | |
| ENST00000583728.5:c.-283+862A>T (ANKRD13B) | ENSP00000467078.1:n.-283+862A>T | |
| XM_017024174.2:c.-283+862A>T (ANKRD13B) | XP_016879663.1:n.-283+862A>T |