Linked Data
ClinVar Variation Id:
850828
dbSNP Id:
rs368744524
ExAC:
2:29420436 C / G
gnomAD v2:
2-29420436-C-G
gnomAD v3:
2-29197570-C-G
gnomAD v4:
2-29197570-C-G
COSMIC:
COSM4989839
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29197570C>G , CM000664.2:g.29197570C>G | GRCh38 |
| NC_000002.11:g.29420436C>G , CM000664.1:g.29420436C>G | GRCh37 |
| NC_000002.10:g.29273940C>G | NCBI36 |
| NG_009445.1:g.728997G>C , LRG_488:g.728997G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.*564C>G (CLIP4) | ENSP00000508948.1:n.*564C>G | |
| ENST00000389048.8:c.4045G>C (ALK) MANE Select | ENSP00000373700.3:p.Asp1349His | |
| ENST00000431873.6:c.1272G>C (ALK) | ||
| ENST00000638605.1:n.922G>C (ALK) | ||
| ENST00000642122.1:c.841G>C (ALK) | ENSP00000493203.1:p.Asp281His | |
| ENST00000389048.7:c.4045G>C (ALK) | ENSP00000373700.3:p.Asp1349His | |
| ENST00000431873.5:c.925G>C (ALK) | ENSP00000414027.2:p.Asp309His | |
| ENST00000618119.4:c.2914G>C (ALK) | ENSP00000482733.1:p.Asp972His | |
| NM_004304.4:c.4045G>C (ALK) | NP_004295.2:p.Asp1349His | |
| NM_001353765.1:c.841G>C (ALK) | NP_001340694.1:p.Asp281His | |
| XM_024452778.1:c.1198G>C (ALK) | XP_024308546.1:p.Asp400His | |
| XM_024452779.1:c.841G>C (ALK) | XP_024308547.1:p.Asp281His | |
| NM_004304.5:c.4045G>C (ALK) MANE Select | NP_004295.2:p.Asp1349His | |
| NM_001353765.2:c.841G>C (ALK) | NP_001340694.1:p.Asp281His |