Linked Data
dbSNP Id:
rs1403900256
gnomAD v2:
22-19164051-G-C
MyVariant Identifiers:
chr22:g.19164051G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176538G>C , CM000684.2:g.19176538G>C | GRCh38 |
| NC_000022.10:g.19164051G>C , CM000684.1:g.19164051G>C | GRCh37 |
| NC_000022.9:g.17544051G>C | NCBI36 |
| NG_033863.1:g.7326C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.747+40C>G MANE Select | ENSP00000215882.5:n.747+40C>G | |
| ENST00000215882.9:c.747+40C>G | ENSP00000215882.5:n.747+40C>G | |
| ENST00000451283.5:c.438+40C>G | ENSP00000401480.1:n.438+40C>G | |
| ENST00000470922.5:n.889+40C>G | ||
| NM_001256534.1:c.768+40C>G | NP_001243463.1:n.768+40C>G | |
| NM_001287387.1:c.438+40C>G | NP_001274316.1:n.438+40C>G | |
| NM_005984.4:c.747+40C>G | NP_005975.1:n.747+40C>G | |
| NR_046298.2:n.798+40C>G | ||
| NM_005984.5:c.747+40C>G MANE Select | NP_005975.1:n.747+40C>G | |
| NM_001256534.2:c.768+40C>G | NP_001243463.1:n.768+40C>G | |
| NM_001287387.2:c.438+40C>G | NP_001274316.1:n.438+40C>G | |
| NR_046298.3:n.671+40C>G |