Linked Data
dbSNP Id:
rs531779223
gnomAD v2:
16-16128816-A-G
gnomAD v3:
16-16034959-A-G
gnomAD v4:
16-16034959-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16034959A>G , CM000678.2:g.16034959A>G | GRCh38 |
| NC_000016.9:g.16128816A>G , CM000678.1:g.16128816A>G | GRCh37 |
| NC_000016.8:g.16036317A>G | NCBI36 |
| NG_028268.1:g.90383A>G | |
| NG_028268.2:g.90383A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.678-1513A>G | ENSP00000382340.4:n.678-1513A>G | |
| ENST00000399410.8:c.678-1513A>G MANE Select | ENSP00000382342.3:n.678-1513A>G | |
| ENST00000572882.3:c.678-1513A>G | ENSP00000461615.2:n.678-1513A>G | |
| ENST00000574224.2:n.753-1513A>G | ||
| ENST00000677164.1:c.552-1513A>G | ENSP00000502873.1:n.552-1513A>G | |
| ENST00000678422.1:c.678-1513A>G | ENSP00000503954.1:n.678-1513A>G | |
| ENST00000679043.1:n.630-1513A>G | ||
| ENST00000399408.6:c.-301-1513A>G | ENSP00000382340.3:n.-301-1513A>G | |
| ENST00000399410.7:c.678-1513A>G | ENSP00000382342.3:n.678-1513A>G | |
| ENST00000572882.2:c.373-1513A>G | ||
| ENST00000574224.1:n.278-1513A>G | ||
| NM_004996.3:c.678-1513A>G | NP_004987.2:n.678-1513A>G | |
| XM_011522497.1:c.654-1513A>G | XP_011520799.1:n.654-1513A>G | |
| XM_011522498.1:c.732-1513A>G | XP_011520800.1:n.732-1513A>G | |
| XM_011522498.2:c.732-1513A>G | XP_011520800.1:n.732-1513A>G | |
| XM_017023237.1:c.732-1513A>G | XP_016878726.1:n.732-1513A>G | |
| XM_017023238.1:c.606-1513A>G | XP_016878727.1:n.606-1513A>G | |
| XM_017023239.1:c.594-1513A>G | XP_016878728.1:n.594-1513A>G | |
| XM_017023240.1:c.732-1513A>G | XP_016878729.1:n.732-1513A>G | |
| XM_017023241.1:c.468-1513A>G | XP_016878730.1:n.468-1513A>G | |
| XM_017023242.1:c.732-1513A>G | XP_016878731.1:n.732-1513A>G | |
| XM_017023243.2:c.732-1513A>G | XP_016878732.1:n.732-1513A>G | |
| NM_004996.4:c.678-1513A>G MANE Select | NP_004987.2:n.678-1513A>G |