Linked Data
ClinVar Variation Id:
335502
ClinVar RCV Id:
RCV000353722
dbSNP Id:
rs745543858
ExAC:
2:27322646 T / C
gnomAD v2:
2-27322646-T-C
gnomAD v3:
2-27099778-T-C
gnomAD v4:
2-27099778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27099778T>C , CM000664.2:g.27099778T>C | GRCh38 |
| NC_000002.11:g.27322646T>C , CM000664.1:g.27322646T>C | GRCh37 |
| NC_000002.10:g.27176150T>C | NCBI36 |
| NG_012199.1:g.18036T>C | |
| NG_012199.2:g.18036T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000640154.2:c.553A>G (CGREF1) | ||
| ENST00000260599.11:c.*28T>C (KHK) | ENSP00000260599.6:n.*28T>C | |
| ENST00000429697.2:c.*28T>C (KHK) | ENSP00000404741.2:n.*28T>C | |
| ENST00000260598.10:c.*28T>C (KHK) MANE Select | ENSP00000260598.5:n.*28T>C | |
| ENST00000260598.9:c.*28T>C (KHK) | ENSP00000260598.5:n.*28T>C | |
| ENST00000260599.10:c.*28T>C (KHK) | ENSP00000260599.6:n.*28T>C | |
| ENST00000402550.5:c.*6A>G (CGREF1) | ENSP00000385103.1:n.*6A>G | |
| ENST00000440612.5:c.*369A>G (CGREF1) | ENSP00000394306.1:n.*369A>G | |
| ENST00000464371.1:n.851T>C (KHK) | ||
| ENST00000490823.5:n.1273T>C (KHK) | ||
| NM_000221.2:c.*28T>C (KHK) | NP_000212.1:n.*28T>C | |
| NM_001166240.1:c.*6A>G (CGREF1) | NP_001159712.1:n.*6A>G | |
| NM_001301324.1:c.*83A>G (CGREF1) | NP_001288253.1:n.*83A>G | |
| NM_006488.2:c.*28T>C (KHK) | NP_006479.1:n.*28T>C | |
| XM_005264294.2:c.*28T>C (KHK) | XP_005264351.1:n.*28T>C | |
| XM_005264296.2:c.*28T>C (KHK) | XP_005264353.1:n.*28T>C | |
| XM_005264298.2:c.*28T>C (KHK) | XP_005264355.1:n.*28T>C | |
| XM_005264294.4:c.*28T>C (KHK) | XP_005264351.1:n.*28T>C | |
| XM_005264296.4:c.*28T>C (KHK) | XP_005264353.1:n.*28T>C | |
| XM_005264298.4:c.*28T>C (KHK) | XP_005264355.1:n.*28T>C | |
| XM_017004060.2:c.*28T>C (KHK) | XP_016859549.1:n.*28T>C | |
| XM_017004061.2:c.*28T>C (KHK) | XP_016859550.1:n.*28T>C | |
| NM_006488.3:c.*28T>C (KHK) MANE Select | NP_006479.1:n.*28T>C | |
| NM_000221.3:c.*28T>C (KHK) | NP_000212.1:n.*28T>C | |
| NM_001166240.2:c.*6A>G (CGREF1) | NP_001159712.1:n.*6A>G | |
| NM_001301324.2:c.*83A>G (CGREF1) | NP_001288253.1:n.*83A>G |