Linked Data
dbSNP Id:
rs756106765
ExAC:
2:29420373 A / T
gnomAD v2:
2-29420373-A-T
gnomAD v4:
2-29197507-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29197507A>T , CM000664.2:g.29197507A>T | GRCh38 |
| NC_000002.11:g.29420373A>T , CM000664.1:g.29420373A>T | GRCh37 |
| NC_000002.10:g.29273877A>T | NCBI36 |
| NG_009445.1:g.729060T>A , LRG_488:g.729060T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.*501A>T (CLIP4) | ENSP00000508948.1:n.*501A>T | |
| ENST00000389048.8:c.4073+35T>A (ALK) MANE Select | ENSP00000373700.3:n.4073+35T>A | |
| ENST00000431873.6:c.1300+35T>A (ALK) | ||
| ENST00000638605.1:n.950+35T>A (ALK) | ||
| ENST00000642122.1:c.869+35T>A (ALK) | ENSP00000493203.1:n.869+35T>A | |
| ENST00000389048.7:c.4073+35T>A (ALK) | ENSP00000373700.3:n.4073+35T>A | |
| ENST00000431873.5:c.953+35T>A (ALK) | ENSP00000414027.2:n.953+35T>A | |
| ENST00000618119.4:c.2942+35T>A (ALK) | ENSP00000482733.1:n.2942+35T>A | |
| NM_004304.4:c.4073+35T>A (ALK) | NP_004295.2:n.4073+35T>A | |
| NM_001353765.1:c.869+35T>A (ALK) | NP_001340694.1:n.869+35T>A | |
| XM_024452778.1:c.1226+35T>A (ALK) | XP_024308546.1:n.1226+35T>A | |
| XM_024452779.1:c.869+35T>A (ALK) | XP_024308547.1:n.869+35T>A | |
| NM_004304.5:c.4073+35T>A (ALK) MANE Select | NP_004295.2:n.4073+35T>A | |
| NM_001353765.2:c.869+35T>A (ALK) | NP_001340694.1:n.869+35T>A |