Linked Data
ClinVar Variation Id:
223918
ClinVar RCV Id:
RCV000209776
dbSNP Id:
rs3219450
gnomAD v2:
19-50920849-G-T
gnomAD v3:
19-50417592-G-T
gnomAD v4:
19-50417592-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50417592G>T , CM000681.2:g.50417592G>T | GRCh38 |
| NC_000019.9:g.50920849G>T , CM000681.1:g.50920849G>T | GRCh37 |
| NC_000019.8:g.55612661G>T | NCBI36 |
| NG_033800.1:g.38270G>T , LRG_785:g.38270G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593887.2:c.3219-250G>T | ENSP00000472607.2:n.3219-250G>T | |
| ENST00000600746.2:n.3410-250G>T | ||
| ENST00000644560.2:c.3225-250G>T | ENSP00000495618.2:n.3225-250G>T | |
| ENST00000687454.1:c.3219-250G>T | ENSP00000510052.1:n.3219-250G>T | |
| ENST00000440232.7:c.3219-250G>T MANE Select | ENSP00000406046.1:n.3219-250G>T | |
| ENST00000595904.6:c.3297-250G>T | ENSP00000472445.1:n.3297-250G>T | |
| ENST00000599857.7:c.3219-250G>T | ENSP00000473052.1:n.3219-250G>T | |
| ENST00000601098.6:c.3219-250G>T | ENSP00000472600.2:n.3219-250G>T | |
| ENST00000613923.6:c.3147-250G>T | ENSP00000481858.2:n.3147-250G>T | |
| ENST00000440232.6:c.3219-250G>T | ENSP00000406046.1:n.3219-250G>T | |
| ENST00000593981.1:c.792-250G>T | ||
| ENST00000595904.5:c.3297-250G>T | ENSP00000472445.1:n.3297-250G>T | |
| ENST00000596221.1:n.244-250G>T | ||
| ENST00000597963.5:n.563-250G>T | ||
| ENST00000599632.1:c.426+323G>T | ||
| ENST00000599857.5:c.3219-250G>T | ENSP00000473052.1:n.3219-250G>T | |
| ENST00000600859.5:c.*86-250G>T | ENSP00000470726.1:n.*86-250G>T | |
| ENST00000613923.4:c.3297-250G>T | ENSP00000481858.1:n.3297-250G>T | |
| NM_001256849.1:c.3219-250G>T , LRG_785t1:c.3219-250G>T | NP_001243778.1:n.3219-250G>T | |
| NM_001308632.1:c.3297-250G>T , LRG_785t2:c.3297-250G>T | NP_001295561.1:n.3297-250G>T | |
| NM_002691.3:c.3219-250G>T | NP_002682.2:n.3219-250G>T | |
| NR_046402.1:n.3185-250G>T | ||
| XM_005259008.3:c.3147-250G>T | XP_005259065.1:n.3147-250G>T | |
| XM_011527038.1:c.3219-250G>T | XP_011525340.1:n.3219-250G>T | |
| XM_011527039.1:c.3219-250G>T | XP_011525341.1:n.3219-250G>T | |
| XM_005259008.4:c.3147-250G>T | XP_005259065.1:n.3147-250G>T | |
| XM_017026881.1:c.3219-250G>T | XP_016882370.1:n.3219-250G>T | |
| XM_017026882.2:c.3147-250G>T | XP_016882371.1:n.3147-250G>T | |
| NM_002691.4:c.3219-250G>T MANE Select | NP_002682.2:n.3219-250G>T | |
| NR_046402.2:n.3161-250G>T |