Linked Data
ClinVar Variation Id:
470867
dbSNP Id:
rs757615099
ExAC:
2:29416743 G / C
gnomAD v2:
2-29416743-G-C
gnomAD v3:
2-29193877-G-C
gnomAD v4:
2-29193877-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193877G>C , CM000664.2:g.29193877G>C | GRCh38 |
| NC_000002.11:g.29416743G>C , CM000664.1:g.29416743G>C | GRCh37 |
| NC_000002.10:g.29270247G>C | NCBI36 |
| NG_009445.1:g.732690C>G , LRG_488:g.732690C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3051G>C (CLIP4) | ENSP00000508948.1:n.1923-3051G>C | |
| ENST00000389048.8:c.4210C>G (ALK) MANE Select | ENSP00000373700.3:p.Leu1404Val | |
| ENST00000431873.6:c.1437C>G (ALK) | ||
| ENST00000638605.1:n.1087C>G (ALK) | ||
| ENST00000642122.1:c.1006C>G (ALK) | ENSP00000493203.1:p.Leu336Val | |
| ENST00000389048.7:c.4210C>G (ALK) | ENSP00000373700.3:p.Leu1404Val | |
| ENST00000431873.5:c.1090C>G (ALK) | ENSP00000414027.2:p.Leu364Val | |
| ENST00000618119.4:c.3079C>G (ALK) | ENSP00000482733.1:p.Leu1027Val | |
| NM_004304.4:c.4210C>G (ALK) | NP_004295.2:p.Leu1404Val | |
| NM_001353765.1:c.1006C>G (ALK) | NP_001340694.1:p.Leu336Val | |
| XM_024452778.1:c.1363C>G (ALK) | XP_024308546.1:p.Leu455Val | |
| XM_024452779.1:c.1006C>G (ALK) | XP_024308547.1:p.Leu336Val | |
| NM_004304.5:c.4210C>G (ALK) MANE Select | NP_004295.2:p.Leu1404Val | |
| NM_001353765.2:c.1006C>G (ALK) | NP_001340694.1:p.Leu336Val |