Linked Data
dbSNP Id:
rs376941346
ExAC:
11:61205354 G / T
gnomAD v2:
11-61205354-G-T
gnomAD v3:
11-61437882-G-T
gnomAD v4:
11-61437882-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61437882G>T , CM000673.2:g.61437882G>T | GRCh38 |
| NC_000011.9:g.61205354G>T , CM000673.1:g.61205354G>T | GRCh37 |
| NC_000011.8:g.60961930G>T | NCBI36 |
| NG_023393.1:g.12758G>T , LRG_519:g.12758G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.260+34G>T MANE Select | ENSP00000301761.3:n.260+34G>T | |
| ENST00000301761.6:c.260+34G>T | ENSP00000301761.2:n.260+34G>T | |
| ENST00000359614.9:c.260+34G>T | ENSP00000352630.5:n.260+34G>T | |
| ENST00000534878.5:c.260+34G>T | ENSP00000471030.1:n.260+34G>T | |
| ENST00000536250.1:c.*262+34G>T | ENSP00000471120.1:n.*262+34G>T | |
| ENST00000536670.5:n.286+34G>T | ||
| ENST00000537782.5:c.260+34G>T | ENSP00000469951.1:n.260+34G>T | |
| ENST00000538594.5:c.260+34G>T | ENSP00000440939.1:n.260+34G>T | |
| ENST00000541135.5:c.260+34G>T | ENSP00000443130.1:n.260+34G>T | |
| ENST00000542074.1:c.36+7700G>T | ENSP00000469670.1:n.36+7700G>T | |
| ENST00000542794.5:c.*262+34G>T | ENSP00000439983.1:n.*262+34G>T | |
| ENST00000543044.2:c.224+34G>T | ENSP00000440219.1:n.224+34G>T | |
| ENST00000543265.1:c.260+34G>T | ENSP00000443660.1:n.260+34G>T | |
| ENST00000544025.5:n.355+34G>T | ||
| ENST00000544801.5:c.260+34G>T | ENSP00000442581.1:n.260+34G>T | |
| ENST00000544880.1:n.264+34G>T | ||
| NM_017841.2:c.260+34G>T , LRG_519t1:c.260+34G>T | NP_060311.1:n.260+34G>T | |
| NM_017841.4:c.260+34G>T MANE Select | NP_060311.1:n.260+34G>T |