Linked Data
dbSNP Id:
rs2136770560
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913188G>T , CM000674.2:g.110913188G>T | GRCh38 |
| NC_000012.11:g.111350992G>T , CM000674.1:g.111350992G>T | GRCh37 |
| NC_000012.10:g.109835375G>T | NCBI36 |
| NG_007554.1:g.12390C>A , LRG_393:g.12390C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.354-44C>A MANE Select | ENSP00000228841.8:n.354-44C>A | |
| ENST00000663220.1:c.297-44C>A | ENSP00000499568.1:n.297-44C>A | |
| ENST00000228841.12:c.354-44C>A | ENSP00000228841.7:n.354-44C>A | |
| ENST00000548438.1:c.312-44C>A | ENSP00000447154.1:n.312-44C>A | |
| ENST00000549029.1:n.242C>A | ||
| NM_000432.3:c.354-44C>A , LRG_393t1:c.354-44C>A | NP_000423.2:n.354-44C>A | |
| NM_000432.4:c.354-44C>A MANE Select | NP_000423.2:n.354-44C>A |