Linked Data
dbSNP Id:
rs2042842260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409286G>A , CM000677.2:g.48409286G>A | GRCh38 |
| NC_000015.9:g.48701483G>A , CM000677.1:g.48701483G>A | GRCh37 |
| NC_000015.8:g.46488775G>A | NCBI36 |
| NG_008805.2:g.241503C>T , LRG_778:g.241503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4501C>T | ||
| ENST00000682767.1:n.3617C>T | ||
| ENST00000316623.10:c.*1704C>T MANE Select | ENSP00000325527.5:n.*1704C>T | |
| ENST00000316623.9:c.*1704C>T | ENSP00000325527.5:n.*1704C>T | |
| NM_000138.4:c.*1704C>T , LRG_778t1:c.*1704C>T | NP_000129.3:n.*1704C>T | |
| NM_000138.5:c.*1704C>T MANE Select | NP_000129.3:n.*1704C>T |