Linked Data
ClinVar Variation Id:
133478
dbSNP Id:
rs201768549
ExAC:
2:29416767 C / T
gnomAD v2:
2-29416767-C-T
gnomAD v3:
2-29193901-C-T
gnomAD v4:
2-29193901-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193901C>T , CM000664.2:g.29193901C>T | GRCh38 |
| NC_000002.11:g.29416767C>T , CM000664.1:g.29416767C>T | GRCh37 |
| NC_000002.10:g.29270271C>T | NCBI36 |
| NG_009445.1:g.732666G>A , LRG_488:g.732666G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3027C>T (CLIP4) | ENSP00000508948.1:n.1923-3027C>T | |
| ENST00000389048.8:c.4186G>A (ALK) MANE Select | ENSP00000373700.3:p.Ala1396Thr | |
| ENST00000431873.6:c.1413G>A (ALK) | ||
| ENST00000638605.1:n.1063G>A (ALK) | ||
| ENST00000642122.1:c.982G>A (ALK) | ENSP00000493203.1:p.Ala328Thr | |
| ENST00000389048.7:c.4186G>A (ALK) | ENSP00000373700.3:p.Ala1396Thr | |
| ENST00000431873.5:c.1066G>A (ALK) | ENSP00000414027.2:p.Ala356Thr | |
| ENST00000618119.4:c.3055G>A (ALK) | ENSP00000482733.1:p.Ala1019Thr | |
| NM_004304.4:c.4186G>A (ALK) | NP_004295.2:p.Ala1396Thr | |
| NM_001353765.1:c.982G>A (ALK) | NP_001340694.1:p.Ala328Thr | |
| XM_024452778.1:c.1339G>A (ALK) | XP_024308546.1:p.Ala447Thr | |
| XM_024452779.1:c.982G>A (ALK) | XP_024308547.1:p.Ala328Thr | |
| NM_004304.5:c.4186G>A (ALK) MANE Select | NP_004295.2:p.Ala1396Thr | |
| NM_001353765.2:c.982G>A (ALK) | NP_001340694.1:p.Ala328Thr |