Linked Data
ClinVar Variation Id:
335511
ClinVar RCV Id:
RCV000382894
dbSNP Id:
rs78939351
gnomAD v2:
2-27323123-G-A
gnomAD v3:
2-27100255-G-A
gnomAD v4:
2-27100255-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27100255G>A , CM000664.2:g.27100255G>A | GRCh38 |
| NC_000002.11:g.27323123G>A , CM000664.1:g.27323123G>A | GRCh37 |
| NC_000002.10:g.27176627G>A | NCBI36 |
| NG_012199.1:g.18513G>A | |
| NG_012199.2:g.18513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640154.2:c.490+161C>T (CGREF1) | ||
| ENST00000260599.11:c.*505G>A (KHK) | ENSP00000260599.6:n.*505G>A | |
| ENST00000260598.10:c.*505G>A (KHK) MANE Select | ENSP00000260598.5:n.*505G>A | |
| ENST00000640154.1:c.282+161C>T (CGREF1) | ENSP00000491464.1:n.282+161C>T | |
| ENST00000260598.9:c.*505G>A (KHK) | ENSP00000260598.5:n.*505G>A | |
| ENST00000260599.10:c.*505G>A (KHK) | ENSP00000260599.6:n.*505G>A | |
| ENST00000402550.5:c.343-415C>T (CGREF1) | ENSP00000385103.1:n.343-415C>T | |
| ENST00000440612.5:c.*306+161C>T (CGREF1) | ENSP00000394306.1:n.*306+161C>T | |
| NM_000221.2:c.*505G>A (KHK) | NP_000212.1:n.*505G>A | |
| NM_001166240.1:c.343-415C>T (CGREF1) | NP_001159712.1:n.343-415C>T | |
| NM_001301324.1:c.*20+161C>T (CGREF1) | NP_001288253.1:n.*20+161C>T | |
| NM_006488.2:c.*505G>A (KHK) | NP_006479.1:n.*505G>A | |
| XM_005264298.2:c.*505G>A (KHK) | XP_005264355.1:n.*505G>A | |
| XM_005264294.4:c.*505G>A (KHK) | XP_005264351.1:n.*505G>A | |
| XM_005264296.4:c.*505G>A (KHK) | XP_005264353.1:n.*505G>A | |
| XM_005264298.4:c.*505G>A (KHK) | XP_005264355.1:n.*505G>A | |
| XM_017004060.2:c.*505G>A (KHK) | XP_016859549.1:n.*505G>A | |
| XM_017004061.2:c.*505G>A (KHK) | XP_016859550.1:n.*505G>A | |
| NM_006488.3:c.*505G>A (KHK) MANE Select | NP_006479.1:n.*505G>A | |
| NM_000221.3:c.*505G>A (KHK) | NP_000212.1:n.*505G>A | |
| NM_001166240.2:c.343-415C>T (CGREF1) | NP_001159712.1:n.343-415C>T | |
| NM_001301324.2:c.*20+161C>T (CGREF1) | NP_001288253.1:n.*20+161C>T |