Linked Data
dbSNP Id:
rs10944479
gnomAD v2:
6-90880393-G-A
gnomAD v3:
6-90170674-G-A
gnomAD v4:
6-90170674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.90170674G>A , CM000668.2:g.90170674G>A | GRCh38 |
| NC_000006.11:g.90880393G>A , CM000668.1:g.90880393G>A | GRCh37 |
| NC_000006.10:g.90937114G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406998.7:c.-162+35895C>T | ENSP00000384145.3:n.-162+35895C>T | |
| ENST00000453877.6:c.-162+35895C>T | ENSP00000397668.2:n.-162+35895C>T | |
| ENST00000470301.6:n.469+35895C>T | ||
| ENST00000695952.1:c.-242+35895C>T | ENSP00000512284.1:n.-242+35895C>T | |
| ENST00000695953.1:n.474+35895C>T | ||
| ENST00000257749.9:c.-162+35895C>T MANE Select | ENSP00000257749.4:n.-162+35895C>T | |
| ENST00000257749.8:c.-162+35895C>T | ENSP00000257749.4:n.-162+35895C>T | |
| ENST00000343122.7:c.-162+35895C>T | ENSP00000345642.3:n.-162+35895C>T | |
| ENST00000406998.6:c.-162+35895C>T | ENSP00000384145.2:n.-162+35895C>T | |
| ENST00000453877.5:c.-162+35895C>T | ENSP00000397668.1:n.-162+35895C>T | |
| ENST00000470301.5:n.469+35895C>T | ||
| ENST00000472023.5:n.454+35895C>T | ||
| ENST00000493201.5:n.380+35895C>T | ||
| ENST00000494747.2:n.469+35895C>T | ||
| ENST00000537989.5:c.-162+35895C>T | ENSP00000437473.1:n.-162+35895C>T | |
| NM_001170794.1:c.-162+35895C>T | NP_001164265.1:n.-162+35895C>T | |
| NM_021813.3:c.-162+35895C>T | NP_068585.1:n.-162+35895C>T | |
| XM_011536037.1:c.-162+35895C>T | XP_011534339.1:n.-162+35895C>T | |
| XM_011536038.1:c.-242+35895C>T | XP_011534340.1:n.-242+35895C>T | |
| XM_011536039.1:c.-162+35895C>T | XP_011534341.1:n.-162+35895C>T | |
| XM_011536040.1:c.-162+35895C>T | XP_011534342.1:n.-162+35895C>T | |
| XM_011536041.1:c.-162+35895C>T | XP_011534343.1:n.-162+35895C>T | |
| XM_011536042.1:c.65+2912C>T | XP_011534344.1:n.65+2912C>T | |
| XM_011536043.1:c.65+2912C>T | XP_011534345.1:n.65+2912C>T | |
| XM_011536039.3:c.-162+35895C>T | XP_011534341.1:n.-162+35895C>T | |
| XM_011536040.2:c.-162+35895C>T | XP_011534342.1:n.-162+35895C>T | |
| XM_017011166.2:c.-242+35895C>T | XP_016866655.1:n.-242+35895C>T | |
| XM_017011167.2:c.-872+35895C>T | XP_016866656.1:n.-872+35895C>T | |
| XM_024446513.1:c.-162+35895C>T | XP_024302281.1:n.-162+35895C>T | |
| NM_021813.4:c.-162+35895C>T MANE Select | NP_068585.1:n.-162+35895C>T | |
| NM_001170794.2:c.-162+35895C>T | NP_001164265.1:n.-162+35895C>T |