Linked Data
ClinVar Variation Id:
239835
dbSNP Id:
rs749418931
ExAC:
2:29416678 C / T
gnomAD v2:
2-29416678-C-T
gnomAD v3:
2-29193812-C-T
gnomAD v4:
2-29193812-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193812C>T , CM000664.2:g.29193812C>T | GRCh38 |
| NC_000002.11:g.29416678C>T , CM000664.1:g.29416678C>T | GRCh37 |
| NC_000002.10:g.29270182C>T | NCBI36 |
| NG_009445.1:g.732755G>A , LRG_488:g.732755G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3116C>T (CLIP4) | ENSP00000508948.1:n.1923-3116C>T | |
| ENST00000389048.8:c.4275G>A (ALK) MANE Select | ENSP00000373700.3:p.Leu1425= | |
| ENST00000431873.6:c.1502G>A (ALK) | ||
| ENST00000638605.1:n.1152G>A (ALK) | ||
| ENST00000642122.1:c.1071G>A (ALK) | ENSP00000493203.1:p.Leu357= | |
| ENST00000389048.7:c.4275G>A (ALK) | ENSP00000373700.3:p.Leu1425= | |
| ENST00000431873.5:c.1155G>A (ALK) | ENSP00000414027.2:p.Leu385= | |
| ENST00000618119.4:c.3144G>A (ALK) | ENSP00000482733.1:p.Leu1048= | |
| NM_004304.4:c.4275G>A (ALK) | NP_004295.2:p.Leu1425= | |
| NM_001353765.1:c.1071G>A (ALK) | NP_001340694.1:p.Leu357= | |
| XM_024452778.1:c.1428G>A (ALK) | XP_024308546.1:p.Leu476= | |
| XM_024452779.1:c.1071G>A (ALK) | XP_024308547.1:p.Leu357= | |
| NM_004304.5:c.4275G>A (ALK) MANE Select | NP_004295.2:p.Leu1425= | |
| NM_001353765.2:c.1071G>A (ALK) | NP_001340694.1:p.Leu357= |