Linked Data
dbSNP Id:
rs2092045028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33066730G>C , CM000679.2:g.33066730G>C | GRCh38 |
| NC_000017.10:g.31393748G>C , CM000679.1:g.31393748G>C | GRCh37 |
| NC_000017.9:g.28417861G>C | NCBI36 |
| NG_029763.1:g.1095078C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225823.7:c.987+22133C>G MANE Select | ENSP00000225823.2:n.987+22133C>G | |
| ENST00000225823.6:c.987+22133C>G | ENSP00000225823.2:n.987+22133C>G | |
| ENST00000359872.6:c.834+22133C>G | ENSP00000352934.6:n.834+22133C>G | |
| ENST00000448983.1:n.392+22133C>G | ||
| NM_001094.4:c.834+22133C>G | NP_001085.2:n.834+22133C>G | |
| NM_183377.1:c.987+22133C>G | NP_899233.1:n.987+22133C>G | |
| NM_001094.5:c.834+22133C>G | NP_001085.2:n.834+22133C>G | |
| NM_183377.2:c.987+22133C>G MANE Select | NP_899233.1:n.987+22133C>G |