Linked Data
dbSNP Id:
rs1280733326
gnomAD v2:
21-47421293-T-A
gnomAD v3:
21-46001379-T-A
gnomAD v4:
21-46001379-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001379T>A , CM000683.2:g.46001379T>A | GRCh38 |
| NC_000021.8:g.47421293T>A , CM000683.1:g.47421293T>A | GRCh37 |
| NC_000021.7:g.46245721T>A | NCBI36 |
| NG_008674.1:g.24631T>A , LRG_475:g.24631T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.348T>A | ||
| ENST00000612273.2:c.75T>A | ||
| ENST00000682634.1:c.75T>A | ||
| ENST00000361866.8:c.1949T>A MANE Select | ENSP00000355180.3:p.Leu650Gln | |
| ENST00000361866.7:c.1949T>A | ENSP00000355180.3:p.Leu650Gln | |
| ENST00000463060.5:n.348T>A | ||
| ENST00000498614.5:n.183T>A | ||
| ENST00000612273.1:c.1943T>A | ENSP00000483630.1:p.Leu648Gln | |
| NM_001848.2:c.1949T>A , LRG_475t1:c.1949T>A | NP_001839.2:p.Leu650Gln | |
| NM_001848.3:c.1949T>A MANE Select | NP_001839.2:p.Leu650Gln |