Linked Data
dbSNP Id:
rs1175550
gnomAD v2:
1-3691528-A-G
gnomAD v3:
1-3774964-A-G
gnomAD v4:
1-3774964-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3774964A>G , CM000663.2:g.3774964A>G | GRCh38 |
| NC_000001.10:g.3691528A>G , CM000663.1:g.3691528A>G | GRCh37 |
| NC_000001.9:g.3681388A>G | NCBI36 |
| NG_033869.1:g.7204A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444870.7:c.-75-335A>G | ENSP00000457386.1:n.-75-335A>G | |
| ENST00000561886.2:c.-75-335A>G | ENSP00000456559.1:n.-75-335A>G | |
| ENST00000642557.4:c.-75-335A>G MANE Select | ENSP00000496314.2:n.-75-335A>G | |
| ENST00000444870.6:c.-75-335A>G | ENSP00000457386.1:n.-75-335A>G | |
| ENST00000452264.1:c.-75-335A>G | ENSP00000457674.1:n.-75-335A>G | |
| ENST00000561886.1:c.-75-335A>G | ENSP00000456559.1:n.-75-335A>G | |
| NM_001163724.2:c.-75-335A>G | NP_001157196.1:n.-75-335A>G | |
| NM_001288583.1:c.-75-335A>G | NP_001275512.1:n.-75-335A>G | |
| NM_001163724.3:c.-75-335A>G | NP_001157196.1:n.-75-335A>G | |
| NM_001288583.2:c.-75-335A>G MANE Select | NP_001275512.1:n.-75-335A>G | |
| NM_001379690.1:c.-75-335A>G | NP_001366619.1:n.-75-335A>G | |
| NM_001379691.1:c.-75-335A>G | NP_001366620.1:n.-75-335A>G |