Linked Data
ClinVar Variation Id:
335501
ClinVar RCV Id:
RCV000319673
dbSNP Id:
rs189674797
ExAC:
2:27322645 A / G
gnomAD v2:
2-27322645-A-G
gnomAD v3:
2-27099777-A-G
gnomAD v4:
2-27099777-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27099777A>G , CM000664.2:g.27099777A>G | GRCh38 |
| NC_000002.11:g.27322645A>G , CM000664.1:g.27322645A>G | GRCh37 |
| NC_000002.10:g.27176149A>G | NCBI36 |
| NG_012199.1:g.18035A>G | |
| NG_012199.2:g.18035A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640154.2:c.554T>C (CGREF1) | ||
| ENST00000260599.11:c.*27A>G (KHK) | ENSP00000260599.6:n.*27A>G | |
| ENST00000429697.2:c.*27A>G (KHK) | ENSP00000404741.2:n.*27A>G | |
| ENST00000260598.10:c.*27A>G (KHK) MANE Select | ENSP00000260598.5:n.*27A>G | |
| ENST00000260598.9:c.*27A>G (KHK) | ENSP00000260598.5:n.*27A>G | |
| ENST00000260599.10:c.*27A>G (KHK) | ENSP00000260599.6:n.*27A>G | |
| ENST00000402550.5:c.*7T>C (CGREF1) | ENSP00000385103.1:n.*7T>C | |
| ENST00000440612.5:c.*370T>C (CGREF1) | ENSP00000394306.1:n.*370T>C | |
| ENST00000464371.1:n.850A>G (KHK) | ||
| ENST00000490823.5:n.1272A>G (KHK) | ||
| NM_000221.2:c.*27A>G (KHK) | NP_000212.1:n.*27A>G | |
| NM_001166240.1:c.*7T>C (CGREF1) | NP_001159712.1:n.*7T>C | |
| NM_001301324.1:c.*84T>C (CGREF1) | NP_001288253.1:n.*84T>C | |
| NM_006488.2:c.*27A>G (KHK) | NP_006479.1:n.*27A>G | |
| XM_005264294.2:c.*27A>G (KHK) | XP_005264351.1:n.*27A>G | |
| XM_005264296.2:c.*27A>G (KHK) | XP_005264353.1:n.*27A>G | |
| XM_005264298.2:c.*27A>G (KHK) | XP_005264355.1:n.*27A>G | |
| XM_005264294.4:c.*27A>G (KHK) | XP_005264351.1:n.*27A>G | |
| XM_005264296.4:c.*27A>G (KHK) | XP_005264353.1:n.*27A>G | |
| XM_005264298.4:c.*27A>G (KHK) | XP_005264355.1:n.*27A>G | |
| XM_017004060.2:c.*27A>G (KHK) | XP_016859549.1:n.*27A>G | |
| XM_017004061.2:c.*27A>G (KHK) | XP_016859550.1:n.*27A>G | |
| NM_006488.3:c.*27A>G (KHK) MANE Select | NP_006479.1:n.*27A>G | |
| NM_000221.3:c.*27A>G (KHK) | NP_000212.1:n.*27A>G | |
| NM_001166240.2:c.*7T>C (CGREF1) | NP_001159712.1:n.*7T>C | |
| NM_001301324.2:c.*84T>C (CGREF1) | NP_001288253.1:n.*84T>C |