Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589890A>G , CM000672.2:g.110589890A>G | GRCh38 |
| NC_000010.10:g.112349648A>G , CM000672.1:g.112349648A>G | GRCh37 |
| NC_000010.9:g.112339638A>G | NCBI36 |
| NG_012217.1:g.27200A>G , LRG_774:g.27200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1310-2A>G | ||
| ENST00000684988.1:n.2055-2A>G | ||
| ENST00000687823.1:n.1324-2A>G | ||
| ENST00000689932.1:n.3473-2A>G | ||
| ENST00000691297.1:n.1543-2A>G | ||
| ENST00000691527.1:n.2213-2A>G | ||
| ENST00000692792.1:n.1529-2A>G | ||
| ENST00000361804.5:c.1410-2A>G MANE Select | ENSP00000354720.5:n.1410-2A>G | |
| ENST00000361804.4:c.1410-2A>G | ENSP00000354720.4:n.1410-2A>G | |
| NM_005445.3:c.1410-2A>G , LRG_774t1:c.1410-2A>G | NP_005436.1:n.1410-2A>G | |
| NM_005445.4:c.1410-2A>G MANE Select | NP_005436.1:n.1410-2A>G |