Linked Data
dbSNP Id:
rs1009115537
gnomAD v2:
11-46747800-G-A
gnomAD v3:
11-46726250-G-A
gnomAD v4:
11-46726250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726250G>A , CM000673.2:g.46726250G>A | GRCh38 |
| NC_000011.9:g.46747800G>A , CM000673.1:g.46747800G>A | GRCh37 |
| NC_000011.8:g.46704376G>A | NCBI36 |
| NG_008953.1:g.12058G>A , LRG_551:g.12058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.874+77G>A MANE Select | ENSP00000308541.5:n.874+77G>A | |
| ENST00000311907.9:c.874+77G>A | ENSP00000308541.5:n.874+77G>A | |
| ENST00000442468.1:c.844+77G>A | ENSP00000387413.1:n.844+77G>A | |
| ENST00000530231.5:c.874+77G>A | ENSP00000433907.1:n.874+77G>A | |
| NM_000506.3:c.874+77G>A | NP_000497.1:n.874+77G>A | |
| NM_000506.4:c.874+77G>A , LRG_551t1:c.874+77G>A | NP_000497.1:n.874+77G>A | |
| NM_001311257.1:c.826+77G>A | NP_001298186.1:n.826+77G>A | |
| XR_428840.2:n.918+77G>A | ||
| XR_428840.4:n.909+77G>A | ||
| NM_000506.5:c.874+77G>A MANE Select | NP_000497.1:n.874+77G>A | |
| NM_001311257.2:c.826+77G>A | NP_001298186.1:n.826+77G>A |