Linked Data
dbSNP Id:
rs1847472
gnomAD v2:
6-90973159-C-A
gnomAD v3:
6-90263440-C-A
gnomAD v4:
6-90263440-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.90263440C>A , CM000668.2:g.90263440C>A | GRCh38 |
| NC_000006.11:g.90973159C>A , CM000668.1:g.90973159C>A | GRCh37 |
| NC_000006.10:g.91029880C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406998.7:c.-275+33040G>T | ENSP00000384145.3:n.-275+33040G>T | |
| ENST00000453877.6:c.-270+8409G>T | ENSP00000397668.2:n.-270+8409G>T | |
| ENST00000470301.6:n.356+8409G>T | ||
| ENST00000695953.1:n.361+8409G>T | ||
| ENST00000257749.9:c.-353+8409G>T MANE Select | ENSP00000257749.4:n.-353+8409G>T | |
| ENST00000257749.8:c.-353+8409G>T | ENSP00000257749.4:n.-353+8409G>T | |
| ENST00000343122.7:c.-270+33040G>T | ENSP00000345642.3:n.-270+33040G>T | |
| ENST00000406998.6:c.-275+33040G>T | ENSP00000384145.2:n.-275+33040G>T | |
| ENST00000453877.5:c.-270+8409G>T | ENSP00000397668.1:n.-270+8409G>T | |
| ENST00000470301.5:n.356+8409G>T | ||
| ENST00000472023.5:n.264-10850G>T | ||
| ENST00000494747.2:n.356+8409G>T | ||
| ENST00000537989.5:c.-275+33040G>T | ENSP00000437473.1:n.-275+33040G>T | |
| NM_001170794.1:c.-275+33040G>T | NP_001164265.1:n.-275+33040G>T | |
| NM_021813.3:c.-353+8409G>T | NP_068585.1:n.-353+8409G>T | |
| XM_011536037.1:c.-275+8409G>T | XP_011534339.1:n.-275+8409G>T | |
| XM_011536038.1:c.-355+33040G>T | XP_011534340.1:n.-355+33040G>T | |
| XM_011536039.1:c.-352-10850G>T | XP_011534341.1:n.-352-10850G>T | |
| XM_011536041.1:c.-270+33040G>T | XP_011534343.1:n.-270+33040G>T | |
| XM_011536042.1:c.-74+33040G>T | XP_011534344.1:n.-74+33040G>T | |
| XM_011536043.1:c.-74+33040G>T | XP_011534345.1:n.-74+33040G>T | |
| XM_011536039.3:c.-352-10850G>T | XP_011534341.1:n.-352-10850G>T | |
| XM_017011166.2:c.-433+8409G>T | XP_016866655.1:n.-433+8409G>T | |
| XM_017011167.2:c.-1063+8409G>T | XP_016866656.1:n.-1063+8409G>T | |
| XM_024446513.1:c.-275+8409G>T | XP_024302281.1:n.-275+8409G>T | |
| NM_021813.4:c.-353+8409G>T MANE Select | NP_068585.1:n.-353+8409G>T | |
| NM_001170794.2:c.-275+33040G>T | NP_001164265.1:n.-275+33040G>T |