Linked Data
dbSNP Id:
rs2025368741
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274928_2274929insGCCA , CM000681.2:g.2274928_2274929insGCCA | GRCh38 |
| NC_000019.9:g.2274927_2274928insGCCA , CM000681.1:g.2274927_2274928insGCCA | GRCh37 |
| NC_000019.8:g.2225927_2225928insGCCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*751_*752insTGGC MANE Select | ENSP00000345102.3:n.*751_*752insTGGC | |
| ENST00000342063.4:c.*751_*752insTGGC | ENSP00000345102.3:n.*751_*752insTGGC | |
| ENST00000621615.1:c.146+5184_146+5185insGCCA | ENSP00000481965.1:n.146+5184_146+5185insGCCA | |
| NM_198532.2:c.*751_*752insTGGC | NP_940934.1:n.*751_*752insTGGC | |
| NM_198532.3:c.*751_*752insTGGC MANE Select | NP_940934.1:n.*751_*752insTGGC |