Linked Data
dbSNP Id:
rs2622633
gnomAD v2:
8-106509975-G-A
gnomAD v3:
8-105497747-G-A
gnomAD v4:
8-105497747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105497747G>A , CM000670.2:g.105497747G>A | GRCh38 |
| NC_000008.10:g.106509975G>A , CM000670.1:g.106509975G>A | GRCh37 |
| NC_000008.9:g.106579151G>A | NCBI36 |
| NG_011723.1:g.183829G>A | |
| NG_011723.2:g.183829G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407775.7:c.301+53366G>A MANE Select | ENSP00000384179.2:n.301+53366G>A | |
| ENST00000407775.6:c.301+53366G>A | ENSP00000384179.2:n.301+53366G>A | |
| ENST00000511341.6:n.1041+53366G>A | ||
| ENST00000520027.5:c.-96+53366G>A | ENSP00000428149.1:n.-96+53366G>A | |
| ENST00000520492.5:c.-96+53366G>A | ENSP00000430757.1:n.-96+53366G>A | |
| ENST00000524235.5:n.514+53366G>A | ||
| NM_012082.3:c.301+53366G>A | NP_036214.2:n.301+53366G>A | |
| XM_011516946.1:c.340+53366G>A | XP_011515248.1:n.340+53366G>A | |
| XM_011516947.1:c.271+53366G>A | XP_011515249.1:n.271+53366G>A | |
| XM_011516948.1:c.142+53366G>A | XP_011515250.1:n.142+53366G>A | |
| XM_011516949.1:c.340+53366G>A | XP_011515251.1:n.340+53366G>A | |
| NM_001362836.1:c.142+53366G>A | NP_001349765.1:n.142+53366G>A | |
| NM_001362837.1:c.-96+53366G>A | NP_001349766.1:n.-96+53366G>A | |
| XM_011516947.3:c.271+53366G>A | XP_011515249.1:n.271+53366G>A | |
| NM_012082.4:c.301+53366G>A MANE Select | NP_036214.2:n.301+53366G>A | |
| NM_001362836.2:c.142+53366G>A | NP_001349765.1:n.142+53366G>A | |
| NM_001362837.2:c.-96+53366G>A | NP_001349766.1:n.-96+53366G>A |