Linked Data
ClinVar Variation Id:
332985
ClinVar RCV Id:
RCV000386722
dbSNP Id:
rs11553356
ExAC:
2:182401957 G / T
gnomAD v2:
2-182401957-G-T
gnomAD v3:
2-181537230-G-T
gnomAD v4:
2-181537230-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181537230G>T , CM000664.2:g.181537230G>T | GRCh38 |
| NC_000002.11:g.182401957G>T , CM000664.1:g.182401957G>T | GRCh37 |
| NC_000002.10:g.182110202G>T | NCBI36 |
| NG_021178.1:g.124878C>A | |
| NG_050623.1:g.85339G>T | |
| NG_021178.2:g.124878C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.*954C>A (CERKL) | ENSP00000508396.1:n.*954C>A | |
| ENST00000397033.7:c.*1703G>T (ITGA4) MANE Select | ENSP00000380227.2:n.*1703G>T | |
| ENST00000410087.8:c.*954C>A (CERKL) MANE Select | ENSP00000386725.3:n.*954C>A | |
| ENST00000410087.7:c.*954C>A (CERKL) | ENSP00000386725.3:n.*954C>A | |
| NM_000885.4:c.*1703G>T (ITGA4) | NP_000876.3:n.*1703G>T | |
| NM_000885.5:c.*1703G>T (ITGA4) | NP_000876.3:n.*1703G>T | |
| NM_001030311.2:c.*954C>A (CERKL) | NP_001025482.1:n.*954C>A | |
| NM_001030312.2:c.*954C>A (CERKL) | NP_001025483.1:n.*954C>A | |
| NM_001030313.2:c.*954C>A (CERKL) | NP_001025484.1:n.*954C>A | |
| NM_001160277.1:c.*954C>A (CERKL) | NP_001153749.1:n.*954C>A | |
| NM_201548.4:c.*954C>A (CERKL) | NP_963842.1:n.*954C>A | |
| NR_027689.1:n.2458C>A (CERKL) | ||
| NR_027690.1:n.2590C>A (CERKL) | ||
| NM_000885.6:c.*1703G>T (ITGA4) MANE Select | NP_000876.3:n.*1703G>T | |
| NM_201548.5:c.*954C>A (CERKL) MANE Select | NP_963842.1:n.*954C>A | |
| NM_001030311.3:c.*954C>A (CERKL) | NP_001025482.1:n.*954C>A | |
| NM_001030312.3:c.*954C>A (CERKL) | NP_001025483.1:n.*954C>A | |
| NM_001030313.3:c.*954C>A (CERKL) | NP_001025484.1:n.*954C>A | |
| NM_001160277.2:c.*954C>A (CERKL) | NP_001153749.1:n.*954C>A | |
| NR_027689.2:n.2456C>A (CERKL) | ||
| NR_027690.2:n.2588C>A (CERKL) |