Linked Data
dbSNP Id:
rs1399290379
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410639A>C , CM000677.2:g.48410639A>C | GRCh38 |
| NC_000015.9:g.48702836A>C , CM000677.1:g.48702836A>C | GRCh37 |
| NC_000015.8:g.46490128A>C | NCBI36 |
| NG_008805.2:g.240150T>G , LRG_778:g.240150T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1775T>G | ENSP00000453958.2:n.*1775T>G | |
| ENST00000682158.1:n.2348T>G | ||
| ENST00000682170.1:n.3148T>G | ||
| ENST00000682767.1:n.2264T>G | ||
| ENST00000316623.10:c.*351T>G MANE Select | ENSP00000325527.5:n.*351T>G | |
| ENST00000316623.9:c.*351T>G | ENSP00000325527.5:n.*351T>G | |
| ENST00000559133.5:c.4336T>G | ||
| NM_000138.4:c.*351T>G , LRG_778t1:c.*351T>G | NP_000129.3:n.*351T>G | |
| NM_000138.5:c.*351T>G MANE Select | NP_000129.3:n.*351T>G |