Linked Data
ClinVar Variation Id:
3056696
ClinVar RCV Id:
RCV003979302
dbSNP Id:
rs5490
ExAC:
19:10381827 A / C
gnomAD v2:
19-10381827-A-C
gnomAD v3:
19-10271151-A-C
gnomAD v4:
19-10271151-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10271151A>C , CM000681.2:g.10271151A>C | GRCh38 |
| NC_000019.9:g.10381827A>C , CM000681.1:g.10381827A>C | GRCh37 |
| NC_000019.8:g.10242827A>C | NCBI36 |
| NG_012083.1:g.5311A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264832.8:c.-9A>C (ICAM1) MANE Select | ENSP00000264832.2:n.-9A>C | |
| ENST00000264832.7:c.-9A>C (ICAM1) | ENSP00000264832.2:n.-9A>C | |
| ENST00000423829.2:c.-9A>C (ICAM1) | ENSP00000413124.2:n.-9A>C | |
| ENST00000588645.1:c.-9A>C (ICAM1) | ENSP00000465680.1:n.-9A>C | |
| NM_000201.2:c.-9A>C (ICAM1) | NP_000192.2:n.-9A>C | |
| XR_936313.1:n.155-4357T>G (LIMASI) | ||
| XR_936314.1:n.155-4357T>G (LIMASI) | ||
| XR_001753864.1:n.576+367T>G (LIMASI) | ||
| XR_001753865.1:n.576+367T>G (LIMASI) | ||
| XR_001753866.1:n.576+367T>G (LIMASI) | ||
| NM_000201.3:c.-9A>C (ICAM1) MANE Select | NP_000192.2:n.-9A>C |