Linked Data
dbSNP Id:
rs1383989446
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410852C>T , CM000677.2:g.48410852C>T | GRCh38 |
| NC_000015.9:g.48703049C>T , CM000677.1:g.48703049C>T | GRCh37 |
| NC_000015.8:g.46490341C>T | NCBI36 |
| NG_008805.2:g.239937G>A , LRG_778:g.239937G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1562G>A | ENSP00000453958.2:n.*1562G>A | |
| ENST00000682158.1:n.2135G>A | ||
| ENST00000682170.1:n.2935G>A | ||
| ENST00000682767.1:n.2051G>A | ||
| ENST00000316623.10:c.*138G>A MANE Select | ENSP00000325527.5:n.*138G>A | |
| ENST00000316623.9:c.*138G>A | ENSP00000325527.5:n.*138G>A | |
| ENST00000559133.5:c.4123G>A | ||
| NM_000138.4:c.*138G>A , LRG_778t1:c.*138G>A | NP_000129.3:n.*138G>A | |
| NM_000138.5:c.*138G>A MANE Select | NP_000129.3:n.*138G>A |