Linked Data
dbSNP Id:
rs11710456
gnomAD v2:
3-186725887-G-A
gnomAD v3:
3-187008099-G-A
gnomAD v4:
3-187008099-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.187008099G>A , CM000665.2:g.187008099G>A | GRCh38 |
| NC_000003.11:g.186725887G>A , CM000665.1:g.186725887G>A | GRCh37 |
| NC_000003.10:g.188208581G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000169298.8:c.-182-30643G>A MANE Select | ENSP00000169298.3:n.-182-30643G>A | |
| ENST00000676633.1:c.-183+11426G>A | ENSP00000504448.1:n.-183+11426G>A | |
| ENST00000676786.1:n.653-9485G>A | ||
| ENST00000677292.1:c.-182-30643G>A | ENSP00000503457.1:n.-182-30643G>A | |
| ENST00000169298.7:c.-182-30643G>A | ENSP00000169298.3:n.-182-30643G>A | |
| ENST00000417392.5:c.-182-30643G>A | ENSP00000407631.1:n.-182-30643G>A | |
| ENST00000427315.5:c.-86-43150G>A | ENSP00000412821.1:n.-86-43150G>A | |
| ENST00000430309.5:c.-182-30643G>A | ENSP00000399525.1:n.-182-30643G>A | |
| ENST00000438590.5:c.-182-30643G>A | ENSP00000416163.1:n.-182-30643G>A | |
| ENST00000448408.5:c.-183+11426G>A | ENSP00000390793.1:n.-183+11426G>A | |
| ENST00000455441.5:c.-86-43150G>A | ENSP00000397273.1:n.-86-43150G>A | |
| ENST00000457772.6:c.-218-30643G>A | ENSP00000412221.2:n.-218-30643G>A | |
| ENST00000458216.5:c.-232-30643G>A | ENSP00000400547.1:n.-232-30643G>A | |
| NM_173216.2:c.-182-30643G>A MANE Select | NP_775323.1:n.-182-30643G>A | |
| NM_173217.2:c.-218-30643G>A | NP_775324.1:n.-218-30643G>A | |
| XM_005247717.2:c.-183+11426G>A | XP_005247774.1:n.-183+11426G>A | |
| XM_006713734.1:c.-182-30643G>A | XP_006713797.1:n.-182-30643G>A | |
| XM_011513085.1:c.-182-30643G>A | XP_011511387.1:n.-182-30643G>A | |
| XM_011513086.1:c.-182-30643G>A | XP_011511388.1:n.-182-30643G>A | |
| XR_924163.1:n.493-30643G>A |