Linked Data
dbSNP Id:
rs12212193
gnomAD v2:
6-90996769-A-G
gnomAD v3:
6-90287050-A-G
gnomAD v4:
6-90287050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.90287050A>G , CM000668.2:g.90287050A>G | GRCh38 |
| NC_000006.11:g.90996769A>G , CM000668.1:g.90996769A>G | GRCh37 |
| NC_000006.10:g.91053490A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406998.7:c.-275+9430T>C | ENSP00000384145.3:n.-275+9430T>C | |
| ENST00000453877.6:c.-363+9430T>C | ENSP00000397668.2:n.-363+9430T>C | |
| ENST00000470301.6:n.263+9430T>C | ||
| ENST00000695953.1:n.268+9430T>C | ||
| ENST00000257749.9:c.-446+9430T>C MANE Select | ENSP00000257749.4:n.-446+9430T>C | |
| ENST00000257749.8:c.-446+9430T>C | ENSP00000257749.4:n.-446+9430T>C | |
| ENST00000343122.7:c.-270+9430T>C | ENSP00000345642.3:n.-270+9430T>C | |
| ENST00000406998.6:c.-275+9430T>C | ENSP00000384145.2:n.-275+9430T>C | |
| ENST00000453877.5:c.-363+9430T>C | ENSP00000397668.1:n.-363+9430T>C | |
| ENST00000470301.5:n.263+9430T>C | ||
| ENST00000472023.5:n.263+9430T>C | ||
| ENST00000494747.2:n.263+9430T>C | ||
| ENST00000537989.5:c.-275+9430T>C | ENSP00000437473.1:n.-275+9430T>C | |
| NM_001170794.1:c.-275+9430T>C | NP_001164265.1:n.-275+9430T>C | |
| NM_021813.3:c.-446+9430T>C | NP_068585.1:n.-446+9430T>C | |
| XM_011536038.1:c.-355+9430T>C | XP_011534340.1:n.-355+9430T>C | |
| XM_011536039.1:c.-353+9430T>C | XP_011534341.1:n.-353+9430T>C | |
| XM_011536041.1:c.-270+9430T>C | XP_011534343.1:n.-270+9430T>C | |
| XM_011536042.1:c.-74+9430T>C | XP_011534344.1:n.-74+9430T>C | |
| XM_011536043.1:c.-74+9430T>C | XP_011534345.1:n.-74+9430T>C | |
| XM_011536039.3:c.-353+9430T>C | XP_011534341.1:n.-353+9430T>C | |
| XM_017011166.2:c.-526+9430T>C | XP_016866655.1:n.-526+9430T>C | |
| XM_017011167.2:c.-1156+9430T>C | XP_016866656.1:n.-1156+9430T>C | |
| NM_021813.4:c.-446+9430T>C MANE Select | NP_068585.1:n.-446+9430T>C | |
| NM_001170794.2:c.-275+9430T>C | NP_001164265.1:n.-275+9430T>C |