Linked Data
dbSNP Id:
rs11663391
gnomAD v2:
18-12516768-C-A
gnomAD v3:
18-12516769-C-A
gnomAD v4:
18-12516769-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12516769C>A , CM000680.2:g.12516769C>A | GRCh38 |
| NC_000018.9:g.12516768C>A , CM000680.1:g.12516768C>A | GRCh37 |
| NC_000018.8:g.12506768C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409402.9:c.730-4238G>T MANE Select | ENSP00000387266.3:n.730-4238G>T | |
| ENST00000309836.9:c.139-4238G>T | ENSP00000309661.5:n.139-4238G>T | |
| ENST00000409402.8:c.730-4238G>T | ENSP00000387266.3:n.730-4238G>T | |
| ENST00000410092.7:c.730-4238G>T | ENSP00000387226.3:n.730-4238G>T | |
| ENST00000440472.6:c.253-4238G>T | ENSP00000404752.1:n.253-4238G>T | |
| ENST00000449797.5:c.370-4238G>T | ENSP00000401392.1:n.370-4238G>T | |
| ENST00000453447.6:c.370-4238G>T | ENSP00000407050.1:n.370-4238G>T | |
| ENST00000497844.6:c.424-4238G>T | ENSP00000467103.1:n.424-4238G>T | |
| ENST00000626255.2:c.370-4238G>T | ENSP00000486927.1:n.370-4238G>T | |
| NM_001128626.1:c.730-4238G>T | NP_001122098.1:n.730-4238G>T | |
| NM_001128627.1:c.370-4238G>T | NP_001122099.1:n.370-4238G>T | |
| NM_020148.2:c.730-4238G>T | NP_064533.3:n.730-4238G>T | |
| XM_005258122.3:c.730-4238G>T | XP_005258179.1:n.730-4238G>T | |
| XM_011525700.1:c.730-4238G>T | XP_011524002.1:n.730-4238G>T | |
| XM_011525701.1:c.730-4238G>T | XP_011524003.1:n.730-4238G>T | |
| XM_011525702.1:c.370-4238G>T | XP_011524004.1:n.370-4238G>T | |
| XM_011525703.1:c.730-4238G>T | XP_011524005.1:n.730-4238G>T | |
| XM_005258122.4:c.730-4238G>T | XP_005258179.1:n.730-4238G>T | |
| XM_011525703.2:c.730-4238G>T | XP_011524005.1:n.730-4238G>T | |
| XM_024451224.1:c.370-4238G>T | XP_024306992.1:n.370-4238G>T | |
| XM_024451225.1:c.406-4238G>T | XP_024306993.1:n.406-4238G>T | |
| NM_001128626.2:c.730-4238G>T MANE Select | NP_001122098.1:n.730-4238G>T | |
| NM_020148.3:c.730-4238G>T | NP_064533.3:n.730-4238G>T | |
| NM_001394323.1:c.406-4238G>T | NP_001381252.1:n.406-4238G>T | |
| NM_001394324.1:c.139-4238G>T | NP_001381253.1:n.139-4238G>T | |
| NM_001394325.1:c.253-4238G>T | NP_001381254.1:n.253-4238G>T |