Linked Data
dbSNP Id:
rs1253176214
gnomAD v2:
2-29420310-C-T
gnomAD v3:
2-29197444-C-T
gnomAD v4:
2-29197444-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29197444C>T , CM000664.2:g.29197444C>T | GRCh38 |
| NC_000002.11:g.29420310C>T , CM000664.1:g.29420310C>T | GRCh37 |
| NC_000002.10:g.29273814C>T | NCBI36 |
| NG_009445.1:g.729123G>A , LRG_488:g.729123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.*438C>T (CLIP4) | ENSP00000508948.1:n.*438C>T | |
| ENST00000389048.8:c.4073+98G>A (ALK) MANE Select | ENSP00000373700.3:n.4073+98G>A | |
| ENST00000431873.6:c.1300+98G>A (ALK) | ||
| ENST00000638605.1:n.950+98G>A (ALK) | ||
| ENST00000642122.1:c.869+98G>A (ALK) | ENSP00000493203.1:n.869+98G>A | |
| ENST00000389048.7:c.4073+98G>A (ALK) | ENSP00000373700.3:n.4073+98G>A | |
| ENST00000431873.5:c.953+98G>A (ALK) | ENSP00000414027.2:n.953+98G>A | |
| ENST00000618119.4:c.2942+98G>A (ALK) | ENSP00000482733.1:n.2942+98G>A | |
| NM_004304.4:c.4073+98G>A (ALK) | NP_004295.2:n.4073+98G>A | |
| NM_001353765.1:c.869+98G>A (ALK) | NP_001340694.1:n.869+98G>A | |
| XM_024452778.1:c.1226+98G>A (ALK) | XP_024308546.1:n.1226+98G>A | |
| XM_024452779.1:c.869+98G>A (ALK) | XP_024308547.1:n.869+98G>A | |
| NM_004304.5:c.4073+98G>A (ALK) MANE Select | NP_004295.2:n.4073+98G>A | |
| NM_001353765.2:c.869+98G>A (ALK) | NP_001340694.1:n.869+98G>A |