Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13288549A>G , CM000682.2:g.13288549A>G | GRCh38 |
| NC_000020.10:g.13269196A>G , CM000682.1:g.13269196A>G | GRCh37 |
| NC_000020.9:g.13217196A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080826.2:c.653A>G (ISM1) MANE Select | NP_543016.1:p.Asp218Gly |
| ENST00000262487.5:c.653A>G (ISM1) MANE Select | ENSP00000262487.3:p.Asp218Gly |
| NM_080826.1:c.653A>G (ISM1) | NP_543016.1:p.Asp218Gly |
| ENST00000262487.4:c.653A>G (ISM1) | ENSP00000262487.3:p.Asp218Gly |
| XM_017027680.1:c.653A>G (ISM1) | XP_016883169.1:p.Asp218Gly |
| XR_001754319.2:n.1367+27421T>C (TASP1) | |
| XR_937280.1:n.687-22367T>C |