Linked Data
ClinVar Variation Id:
335689
dbSNP Id:
rs372612147
ExAC:
2:29416578 C / A
gnomAD v2:
2-29416578-C-A
gnomAD v3:
2-29193712-C-A
gnomAD v4:
2-29193712-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193712C>A , CM000664.2:g.29193712C>A | GRCh38 |
| NC_000002.11:g.29416578C>A , CM000664.1:g.29416578C>A | GRCh37 |
| NC_000002.10:g.29270082C>A | NCBI36 |
| NG_009445.1:g.732855G>T , LRG_488:g.732855G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3216C>A (CLIP4) | ENSP00000508948.1:n.1923-3216C>A | |
| ENST00000389048.8:c.4375G>T (ALK) MANE Select | ENSP00000373700.3:p.Ala1459Ser | |
| ENST00000431873.6:c.1602G>T (ALK) | ||
| ENST00000638605.1:n.1252G>T (ALK) | ||
| ENST00000642122.1:c.1171G>T (ALK) | ENSP00000493203.1:p.Ala391Ser | |
| ENST00000389048.7:c.4375G>T (ALK) | ENSP00000373700.3:p.Ala1459Ser | |
| ENST00000431873.5:c.1255G>T (ALK) | ENSP00000414027.2:p.Ala419Ser | |
| ENST00000618119.4:c.3244G>T (ALK) | ENSP00000482733.1:p.Ala1082Ser | |
| NM_004304.4:c.4375G>T (ALK) | NP_004295.2:p.Ala1459Ser | |
| NM_001353765.1:c.1171G>T (ALK) | NP_001340694.1:p.Ala391Ser | |
| XM_024452778.1:c.1528G>T (ALK) | XP_024308546.1:p.Ala510Ser | |
| XM_024452779.1:c.1171G>T (ALK) | XP_024308547.1:p.Ala391Ser | |
| NM_004304.5:c.4375G>T (ALK) MANE Select | NP_004295.2:p.Ala1459Ser | |
| NM_001353765.2:c.1171G>T (ALK) | NP_001340694.1:p.Ala391Ser |