Linked Data
dbSNP Id:
rs2289577
gnomAD v2:
6-90640491-C-T
gnomAD v3:
6-89930772-C-T
gnomAD v4:
6-89930772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.89930772C>T , CM000668.2:g.89930772C>T | GRCh38 |
| NC_000006.11:g.90640491C>T , CM000668.1:g.90640491C>T | GRCh37 |
| NC_000006.10:g.90697212C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257749.9:c.*1636G>A MANE Select | ENSP00000257749.4:n.*1636G>A | |
| ENST00000257749.8:c.*1636G>A | ENSP00000257749.4:n.*1636G>A | |
| ENST00000537989.5:c.*1636G>A | ENSP00000437473.1:n.*1636G>A | |
| NM_001170794.1:c.*1636G>A | NP_001164265.1:n.*1636G>A | |
| NM_021813.3:c.*1636G>A | NP_068585.1:n.*1636G>A | |
| XM_005248758.3:c.*1636G>A | XP_005248815.1:n.*1636G>A | |
| XM_005248759.3:c.*1636G>A | XP_005248816.1:n.*1636G>A | |
| XM_011536037.1:c.*1636G>A | XP_011534339.1:n.*1636G>A | |
| XM_011536038.1:c.*1636G>A | XP_011534340.1:n.*1636G>A | |
| XM_011536039.1:c.*1636G>A | XP_011534341.1:n.*1636G>A | |
| XM_011536040.1:c.*1636G>A | XP_011534342.1:n.*1636G>A | |
| XM_011536041.1:c.*1636G>A | XP_011534343.1:n.*1636G>A | |
| XM_005248758.5:c.*1636G>A | XP_005248815.1:n.*1636G>A | |
| XM_005248759.5:c.*1636G>A | XP_005248816.1:n.*1636G>A | |
| XM_017011166.2:c.*1636G>A | XP_016866655.1:n.*1636G>A | |
| XM_024446510.1:c.*1636G>A | XP_024302278.1:n.*1636G>A | |
| XM_024446511.1:c.*1636G>A | XP_024302279.1:n.*1636G>A | |
| NM_021813.4:c.*1636G>A MANE Select | NP_068585.1:n.*1636G>A | |
| NM_001170794.2:c.*1636G>A | NP_001164265.1:n.*1636G>A |