Linked Data
ClinVar Variation Id:
332994
ClinVar RCV Id:
RCV000391364
dbSNP Id:
rs193186986
ExAC:
2:182402439 T / A
gnomAD v2:
2-182402439-T-A
gnomAD v3:
2-181537712-T-A
gnomAD v4:
2-181537712-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181537712T>A , CM000664.2:g.181537712T>A | GRCh38 |
| NC_000002.11:g.182402439T>A , CM000664.1:g.182402439T>A | GRCh37 |
| NC_000002.10:g.182110684T>A | NCBI36 |
| NG_021178.1:g.124396A>T | |
| NG_050623.1:g.85821T>A | |
| NG_021178.2:g.124396A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.*472A>T (CERKL) | ENSP00000508396.1:n.*472A>T | |
| ENST00000397033.7:c.*2185T>A (ITGA4) MANE Select | ENSP00000380227.2:n.*2185T>A | |
| ENST00000410087.8:c.*472A>T (CERKL) MANE Select | ENSP00000386725.3:n.*472A>T | |
| ENST00000409440.7:c.*472A>T (CERKL) | ENSP00000387080.3:n.*472A>T | |
| ENST00000410087.7:c.*472A>T (CERKL) | ENSP00000386725.3:n.*472A>T | |
| NM_000885.4:c.*2185T>A (ITGA4) | NP_000876.3:n.*2185T>A | |
| NM_000885.5:c.*2185T>A (ITGA4) | NP_000876.3:n.*2185T>A | |
| NM_001030311.2:c.*472A>T (CERKL) | NP_001025482.1:n.*472A>T | |
| NM_001030312.2:c.*472A>T (CERKL) | NP_001025483.1:n.*472A>T | |
| NM_001030313.2:c.*472A>T (CERKL) | NP_001025484.1:n.*472A>T | |
| NM_001160277.1:c.*472A>T (CERKL) | NP_001153749.1:n.*472A>T | |
| NM_201548.4:c.*472A>T (CERKL) | NP_963842.1:n.*472A>T | |
| NR_027689.1:n.1976A>T (CERKL) | ||
| NR_027690.1:n.2108A>T (CERKL) | ||
| NM_000885.6:c.*2185T>A (ITGA4) MANE Select | NP_000876.3:n.*2185T>A | |
| NM_201548.5:c.*472A>T (CERKL) MANE Select | NP_963842.1:n.*472A>T | |
| NM_001030311.3:c.*472A>T (CERKL) | NP_001025482.1:n.*472A>T | |
| NM_001030312.3:c.*472A>T (CERKL) | NP_001025483.1:n.*472A>T | |
| NM_001030313.3:c.*472A>T (CERKL) | NP_001025484.1:n.*472A>T | |
| NM_001160277.2:c.*472A>T (CERKL) | NP_001153749.1:n.*472A>T | |
| NR_027689.2:n.1974A>T (CERKL) | ||
| NR_027690.2:n.2106A>T (CERKL) |