Linked Data
dbSNP Id:
rs1245720070
gnomAD v2:
2-15564247-G-C
gnomAD v3:
2-15424123-G-C
gnomAD v4:
2-15424123-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15424123G>C , CM000664.2:g.15424123G>C | GRCh38 |
| NC_000002.11:g.15564247G>C , CM000664.1:g.15564247G>C | GRCh37 |
| NC_000002.10:g.15481698G>C | NCBI36 |
| NG_032964.1:g.142226C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.674+192C>G | ||
| ENST00000700062.1:c.674+192C>G | ||
| ENST00000700065.1:n.2590+192C>G | ||
| ENST00000700066.1:c.2094+192C>G | ENSP00000514780.1:n.2094+192C>G | |
| ENST00000281513.10:c.2577+192C>G MANE Select | ENSP00000281513.5:n.2577+192C>G | |
| ENST00000281513.9:c.2577+192C>G | ENSP00000281513.5:n.2577+192C>G | |
| ENST00000441755.5:c.78+192C>G | ENSP00000396501.1:n.78+192C>G | |
| ENST00000442506.5:c.80+192C>G | ||
| NM_015909.3:c.2577+192C>G | NP_056993.2:n.2577+192C>G | |
| NR_052013.2:n.2621+192C>G | ||
| XM_011510357.1:c.2448+192C>G | XP_011508659.1:n.2448+192C>G | |
| XM_011510358.1:c.2577+192C>G | XP_011508660.1:n.2577+192C>G | |
| XM_011510359.1:c.1938+192C>G | XP_011508661.1:n.1938+192C>G | |
| XM_011510360.1:c.378+192C>G | XP_011508662.1:n.378+192C>G | |
| XM_011510361.1:c.369+192C>G | XP_011508663.1:n.369+192C>G | |
| XM_011510357.2:c.2448+192C>G | XP_011508659.1:n.2448+192C>G | |
| XM_011510358.2:c.2577+192C>G | XP_011508660.1:n.2577+192C>G | |
| XM_011510360.2:c.378+192C>G | XP_011508662.1:n.378+192C>G | |
| XM_011510361.2:c.369+192C>G | XP_011508663.1:n.369+192C>G | |
| XM_017004317.1:c.2577+192C>G | XP_016859806.1:n.2577+192C>G | |
| XM_024452961.1:c.1938+192C>G | XP_024308729.1:n.1938+192C>G | |
| NM_015909.4:c.2577+192C>G MANE Select | NP_056993.2:n.2577+192C>G | |
| NR_052013.3:n.2607+192C>G |