Linked Data
dbSNP Id:
rs12204127
gnomAD v2:
6-90698274-C-T
gnomAD v3:
6-89988555-C-T
gnomAD v4:
6-89988555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.89988555C>T , CM000668.2:g.89988555C>T | GRCh38 |
| NC_000006.11:g.90698274C>T , CM000668.1:g.90698274C>T | GRCh37 |
| NC_000006.10:g.90754995C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406998.7:c.243+20047G>A | ENSP00000384145.3:n.243+20047G>A | |
| ENST00000453877.6:c.243+20047G>A | ENSP00000397668.2:n.243+20047G>A | |
| ENST00000695952.1:c.243+20047G>A | ENSP00000512284.1:n.243+20047G>A | |
| ENST00000695953.1:n.1093+20047G>A | ||
| ENST00000695954.1:n.336-12652G>A | ||
| ENST00000257749.9:c.243+20047G>A MANE Select | ENSP00000257749.4:n.243+20047G>A | |
| ENST00000257749.8:c.243+20047G>A | ENSP00000257749.4:n.243+20047G>A | |
| ENST00000343122.7:c.243+20047G>A | ENSP00000345642.3:n.243+20047G>A | |
| ENST00000537989.5:c.243+20047G>A | ENSP00000437473.1:n.243+20047G>A | |
| NM_001170794.1:c.243+20047G>A | NP_001164265.1:n.243+20047G>A | |
| NM_021813.3:c.243+20047G>A | NP_068585.1:n.243+20047G>A | |
| XM_005248758.3:c.351+20047G>A | XP_005248815.1:n.351+20047G>A | |
| XM_005248759.3:c.243+20047G>A | XP_005248816.1:n.243+20047G>A | |
| XM_011536037.1:c.243+20047G>A | XP_011534339.1:n.243+20047G>A | |
| XM_011536038.1:c.243+20047G>A | XP_011534340.1:n.243+20047G>A | |
| XM_011536039.1:c.243+20047G>A | XP_011534341.1:n.243+20047G>A | |
| XM_011536040.1:c.243+20047G>A | XP_011534342.1:n.243+20047G>A | |
| XM_011536041.1:c.243+20047G>A | XP_011534343.1:n.243+20047G>A | |
| XM_011536042.1:c.549+20047G>A | XP_011534344.1:n.549+20047G>A | |
| XM_011536043.1:c.549+20047G>A | XP_011534345.1:n.549+20047G>A | |
| XM_005248758.5:c.351+20047G>A | XP_005248815.1:n.351+20047G>A | |
| XM_005248759.5:c.243+20047G>A | XP_005248816.1:n.243+20047G>A | |
| XM_011536039.3:c.243+20047G>A | XP_011534341.1:n.243+20047G>A | |
| XM_011536040.2:c.243+20047G>A | XP_011534342.1:n.243+20047G>A | |
| XM_017011166.2:c.243+20047G>A | XP_016866655.1:n.243+20047G>A | |
| XM_017011167.2:c.501+20047G>A | XP_016866656.1:n.501+20047G>A | |
| XM_024446510.1:c.501+20047G>A | XP_024302278.1:n.501+20047G>A | |
| XM_024446511.1:c.501+20047G>A | XP_024302279.1:n.501+20047G>A | |
| XM_024446513.1:c.243+20047G>A | XP_024302281.1:n.243+20047G>A | |
| NM_021813.4:c.243+20047G>A MANE Select | NP_068585.1:n.243+20047G>A | |
| NM_001170794.2:c.243+20047G>A | NP_001164265.1:n.243+20047G>A |