Linked Data
ClinVar Variation Id:
2731644
ClinVar RCV Id:
RCV003588354
dbSNP Id:
rs79708106
gnomAD v2:
1-160260014-A-G
gnomAD v4:
1-160290224-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160290224A>G , CM000663.2:g.160290224A>G | GRCh38 |
| NC_000001.10:g.160260014A>G , CM000663.1:g.160260014A>G | GRCh37 |
| NC_000001.9:g.158526638A>G | NCBI36 |
| NG_050927.1:g.58341T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696202.1:n.3288-8T>C (COPA) | ||
| ENST00000696203.1:n.6100-8T>C (COPA) | ||
| ENST00000696204.1:n.6307-8T>C (COPA) | ||
| ENST00000696205.1:n.2043-8T>C (COPA) | ||
| ENST00000696206.1:n.3077-8T>C (COPA) | ||
| ENST00000696207.1:n.4545-8T>C (COPA) | ||
| ENST00000696208.1:n.3829-8T>C (COPA) | ||
| ENST00000696209.1:n.4480T>C (COPA) | ||
| ENST00000241704.8:c.3616-8T>C (COPA) MANE Select | ENSP00000241704.7:n.3616-8T>C | |
| ENST00000647683.1:c.3556-8T>C (COPA) | ENSP00000497495.1:n.3556-8T>C | |
| ENST00000647693.1:n.4537-8T>C (COPA) | ||
| ENST00000647799.1:c.*2970-8T>C (COPA) | ENSP00000497970.1:n.*2970-8T>C | |
| ENST00000648280.1:c.1298-8T>C (COPA) | ||
| ENST00000648501.1:c.3089-8T>C (COPA) | ||
| ENST00000648805.1:c.*2147-8T>C (COPA) | ENSP00000497433.1:n.*2147-8T>C | |
| ENST00000649231.1:c.*1476-8T>C (COPA) | ENSP00000498061.1:n.*1476-8T>C | |
| ENST00000649676.1:c.3016-8T>C (COPA) | ENSP00000497257.1:n.3016-8T>C | |
| ENST00000649787.1:c.3556-8T>C (COPA) | ENSP00000497231.1:n.3556-8T>C | |
| ENST00000649963.1:c.*3305-8T>C (COPA) | ENSP00000498129.1:n.*3305-8T>C | |
| ENST00000650154.1:c.*3053-8T>C (COPA) | ENSP00000497094.1:n.*3053-8T>C | |
| ENST00000241704.7:c.3616-8T>C (COPA) | ENSP00000241704.7:n.3616-8T>C | |
| ENST00000368069.7:c.3643-8T>C (COPA) | ENSP00000357048.3:n.3643-8T>C | |
| NM_001098398.1:c.3643-8T>C (COPA) | NP_001091868.1:n.3643-8T>C | |
| NM_004371.3:c.3616-8T>C (COPA) | NP_004362.2:n.3616-8T>C | |
| XM_011509584.1:c.-176+3633A>G (NHLH1) | XP_011507886.1:n.-176+3633A>G | |
| XR_001738265.1:n.134-1033A>G | ||
| NM_001098398.2:c.3643-8T>C (COPA) | NP_001091868.1:n.3643-8T>C | |
| NM_004371.4:c.3616-8T>C (COPA) MANE Select | NP_004362.2:n.3616-8T>C |