Linked Data
ClinVar Variation Id:
412904
dbSNP Id:
rs139039449
ExAC:
2:29416528 G / A
gnomAD v2:
2-29416528-G-A
gnomAD v3:
2-29193662-G-A
gnomAD v4:
2-29193662-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193662G>A , CM000664.2:g.29193662G>A | GRCh38 |
| NC_000002.11:g.29416528G>A , CM000664.1:g.29416528G>A | GRCh37 |
| NC_000002.10:g.29270032G>A | NCBI36 |
| NG_009445.1:g.732905C>T , LRG_488:g.732905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3266G>A (CLIP4) | ENSP00000508948.1:n.1923-3266G>A | |
| ENST00000389048.8:c.4425C>T (ALK) MANE Select | ENSP00000373700.3:p.His1475= | |
| ENST00000431873.6:c.1652C>T (ALK) | ||
| ENST00000638605.1:n.1302C>T (ALK) | ||
| ENST00000642122.1:c.1221C>T (ALK) | ENSP00000493203.1:p.His407= | |
| ENST00000389048.7:c.4425C>T (ALK) | ENSP00000373700.3:p.His1475= | |
| ENST00000431873.5:c.1305C>T (ALK) | ENSP00000414027.2:p.His435= | |
| ENST00000618119.4:c.3294C>T (ALK) | ENSP00000482733.1:p.His1098= | |
| NM_004304.4:c.4425C>T (ALK) | NP_004295.2:p.His1475= | |
| NM_001353765.1:c.1221C>T (ALK) | NP_001340694.1:p.His407= | |
| XM_024452778.1:c.1578C>T (ALK) | XP_024308546.1:p.His526= | |
| XM_024452779.1:c.1221C>T (ALK) | XP_024308547.1:p.His407= | |
| NM_004304.5:c.4425C>T (ALK) MANE Select | NP_004295.2:p.His1475= | |
| NM_001353765.2:c.1221C>T (ALK) | NP_001340694.1:p.His407= |