Linked Data
dbSNP Id:
rs2130615119
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146899A>T , CM000670.2:g.38146899A>T | GRCh38 |
| NC_000008.10:g.38004417A>T , CM000670.1:g.38004417A>T | GRCh37 |
| NC_000008.9:g.38123574A>T | NCBI36 |
| NG_011827.1:g.9184T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.307-452T>A MANE Select | ENSP00000276449.3:n.307-452T>A | |
| ENST00000276449.8:c.307-452T>A | ENSP00000276449.3:n.307-452T>A | |
| ENST00000520114.1:n.794-452T>A | ||
| ENST00000521236.1:c.61-452T>A | ENSP00000430030.1:n.61-452T>A | |
| ENST00000522050.1:c.243-452T>A | ||
| NM_000349.2:c.307-452T>A | NP_000340.2:n.307-452T>A | |
| XM_006716392.1:c.307-452T>A | XP_006716455.1:n.307-452T>A | |
| NM_000349.3:c.307-452T>A MANE Select | NP_000340.2:n.307-452T>A |