Linked Data
dbSNP Id:
rs11860248
gnomAD v2:
16-24577766-T-G
gnomAD v3:
16-24566445-T-G
gnomAD v4:
16-24566445-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.24566445T>G , CM000678.2:g.24566445T>G | GRCh38 |
| NC_000016.9:g.24577766T>G , CM000678.1:g.24577766T>G | GRCh37 |
| NC_000016.8:g.24485267T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319715.10:c.1590-698T>G MANE Select | ENSP00000317872.4:n.1590-698T>G | |
| ENST00000646282.1:c.1704-698T>G | ENSP00000496720.1:n.1704-698T>G | |
| ENST00000319715.8:c.1590-698T>G | ENSP00000317872.4:n.1590-698T>G | |
| ENST00000348022.6:c.1590-698T>G | ENSP00000316291.4:n.1590-698T>G | |
| ENST00000381039.7:c.1289+4284T>G | ENSP00000370427.3:n.1289+4284T>G | |
| ENST00000562430.5:n.2380-698T>G | ||
| ENST00000564314.5:c.1191-698T>G | ENSP00000456750.1:n.1191-698T>G | |
| ENST00000570185.1:n.278-698T>G | ||
| NM_006910.4:c.1590-698T>G | NP_008841.2:n.1590-698T>G | |
| NM_018703.3:c.1590-698T>G | NP_061173.1:n.1590-698T>G | |
| XM_005255461.2:c.1704-698T>G | XP_005255518.1:n.1704-698T>G | |
| XM_005255462.2:c.1704-698T>G | XP_005255519.1:n.1704-698T>G | |
| NM_006910.5:c.1590-698T>G MANE Select | NP_008841.2:n.1590-698T>G | |
| NM_018703.4:c.1590-698T>G | NP_061173.1:n.1590-698T>G |