Linked Data
dbSNP Id:
rs1859026732
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842627T>C , CM000673.2:g.102842627T>C | GRCh38 |
| NC_000011.9:g.102713358T>C , CM000673.1:g.102713358T>C | GRCh37 |
| NC_000011.8:g.102218568T>C | NCBI36 |
| NG_012100.1:g.5985A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.350+45A>G MANE Select | ENSP00000299855.5:n.350+45A>G | |
| ENST00000299855.9:c.350+45A>G | ENSP00000299855.5:n.350+45A>G | |
| ENST00000524478.1:c.*192+45A>G | ENSP00000435255.1:n.*192+45A>G | |
| NM_002422.3:c.350+45A>G | NP_002413.1:n.350+45A>G | |
| NM_002422.4:c.350+45A>G | NP_002413.1:n.350+45A>G | |
| NM_002422.5:c.350+45A>G MANE Select | NP_002413.1:n.350+45A>G |