Linked Data
dbSNP Id:
rs1275780233
gnomAD v2:
10-89623435-T-C
gnomAD v3:
10-87863678-T-C
gnomAD v4:
10-87863678-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863678T>C , CM000672.2:g.87863678T>C | GRCh38 |
| NC_000010.10:g.89623435T>C , CM000672.1:g.89623435T>C | GRCh37 |
| NC_000010.9:g.89613415T>C | NCBI36 |
| NG_007466.2:g.5241T>C , LRG_311:g.5241T>C | |
| NG_033079.1:g.4760A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-792T>C | ENSP00000514759.2:n.-792T>C | |
| ENST00000710265.1:c.-792T>C | ENSP00000518161.1:n.-792T>C | |
| ENST00000706954.1:c.-16-776T>C | ENSP00000516674.1:n.-16-776T>C | |
| ENST00000706955.1:c.-792T>C | ENSP00000516675.1:n.-792T>C | |
| ENST00000688158.1:c.-792T>C | ENSP00000509254.1:n.-792T>C | |
| ENST00000688308.1:c.-17+565T>C | ENSP00000508752.1:n.-17+565T>C | |
| ENST00000693560.1:c.-272T>C | ENSP00000509861.1:n.-272T>C | |
| ENST00000371953.8:c.-792T>C MANE Select | ENSP00000361021.3:n.-792T>C | |
| ENST00000371953.7:c.-792T>C | ENSP00000361021.3:n.-792T>C | |
| ENST00000610634.1:c.-894T>C | ENSP00000477517.1:n.-894T>C | |
| NM_000314.5:c.-791T>C | NP_000305.3:n.-791T>C | |
| NM_000314.6:c.-791T>C | NP_000305.3:n.-791T>C | |
| NM_001304717.2:c.-272T>C | NP_001291646.2:n.-272T>C | |
| NM_001304718.1:c.-1496T>C | NP_001291647.1:n.-1496T>C | |
| NM_000314.7:c.-791T>C | NP_000305.3:n.-791T>C | |
| NM_001304717.5:c.-272T>C | NP_001291646.4:n.-272T>C | |
| NM_001304718.2:c.-1496T>C | NP_001291647.1:n.-1496T>C | |
| NM_000314.8:c.-792T>C MANE Select | NP_000305.3:n.-792T>C |