Linked Data
ClinVar Variation Id:
681804
ClinVar RCV Id:
RCV000841768
dbSNP Id:
rs11866328
gnomAD v2:
16-9862556-G-T
gnomAD v3:
16-9768699-G-T
gnomAD v4:
16-9768699-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9768699G>T , CM000678.2:g.9768699G>T | GRCh38 |
| NC_000016.9:g.9862556G>T , CM000678.1:g.9862556G>T | GRCh37 |
| NC_000016.8:g.9770057G>T | NCBI36 |
| NG_011812.1:g.419056C>A | |
| NG_011812.2:g.419056C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.2595+152C>A MANE Select | ENSP00000332549.3:n.2595+152C>A | |
| ENST00000535259.6:c.2124+152C>A | ENSP00000441572.3:n.2124+152C>A | |
| ENST00000636273.2:n.2188+152C>A | ||
| ENST00000674742.1:c.2124+152C>A | ENSP00000502200.1:n.2124+152C>A | |
| ENST00000675398.1:c.2357-3751C>A | ENSP00000502752.1:n.2357-3751C>A | |
| ENST00000330684.3:c.2595+152C>A | ENSP00000332549.3:n.2595+152C>A | |
| ENST00000396573.6:c.2595+152C>A | ENSP00000379818.2:n.2595+152C>A | |
| ENST00000396575.6:c.2184+152C>A | ENSP00000379820.3:n.2184+152C>A | |
| ENST00000461292.3:n.2234+152C>A | ||
| ENST00000463531.1:n.378+152C>A | ||
| ENST00000535259.5:c.2184+152C>A | ENSP00000441572.2:n.2184+152C>A | |
| ENST00000562109.5:c.2595+152C>A | ENSP00000454998.1:n.2595+152C>A | |
| NM_000833.4:c.2595+152C>A | NP_000824.1:n.2595+152C>A | |
| NM_001134407.2:c.2595+152C>A | NP_001127879.1:n.2595+152C>A | |
| NM_001134408.2:c.2595+152C>A | NP_001127880.1:n.2595+152C>A | |
| XM_011522456.1:c.2436+152C>A | XP_011520758.1:n.2436+152C>A | |
| XM_011522457.1:c.2337+152C>A | XP_011520759.1:n.2337+152C>A | |
| XM_011522458.1:c.2124+152C>A | XP_011520760.1:n.2124+152C>A | |
| XM_011522459.1:c.2124+152C>A | XP_011520761.1:n.2124+152C>A | |
| XM_011522460.1:c.2124+152C>A | XP_011520762.1:n.2124+152C>A | |
| XM_011522461.1:c.2595+152C>A | XP_011520763.1:n.2595+152C>A | |
| XM_011522458.3:c.2124+152C>A | XP_011520760.1:n.2124+152C>A | |
| XM_011522461.3:c.2595+152C>A | XP_011520763.1:n.2595+152C>A | |
| XM_017023172.1:c.2751+152C>A | XP_016878661.1:n.2751+152C>A | |
| XM_017023173.1:c.2751+152C>A | XP_016878662.1:n.2751+152C>A | |
| NM_001134407.3:c.2595+152C>A MANE Select | NP_001127879.1:n.2595+152C>A | |
| NM_000833.5:c.2595+152C>A | NP_000824.1:n.2595+152C>A |