Linked Data
dbSNP Id:
rs763161804
ExAC:
1:66075874 A / G
gnomAD v2:
1-66075874-A-G
gnomAD v4:
1-65610191-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65610191A>G , CM000663.2:g.65610191A>G | GRCh38 |
| NC_000001.10:g.66075874A>G , CM000663.1:g.66075874A>G | GRCh37 |
| NC_000001.9:g.65848462A>G | NCBI36 |
| NG_015831.2:g.194627A>G , LRG_283:g.194627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349533.11:c.1913-23A>G MANE Select | ENSP00000330393.7:n.1913-23A>G | |
| ENST00000344610.12:c.1913-23A>G | ENSP00000340884.8:n.1913-23A>G | |
| ENST00000349533.10:c.1913-23A>G | ENSP00000330393.6:n.1913-23A>G | |
| ENST00000371058.1:c.1913-23A>G | ENSP00000360097.1:n.1913-23A>G | |
| ENST00000371059.7:c.1913-23A>G | ENSP00000360098.3:n.1913-23A>G | |
| ENST00000371060.7:c.1913-23A>G | ENSP00000360099.3:n.1913-23A>G | |
| ENST00000406510.7:c.-126-26000A>G | ENSP00000384025.3:n.-126-26000A>G | |
| ENST00000462765.5:n.2063-23A>G | ||
| ENST00000616738.4:c.1913-23A>G | ENSP00000483390.1:n.1913-23A>G | |
| NM_001003679.3:c.1913-23A>G , LRG_283t1:c.1913-23A>G | NP_001003679.1:n.1913-23A>G | |
| NM_001003680.3:c.1913-23A>G , LRG_283t2:c.1913-23A>G | NP_001003680.1:n.1913-23A>G | |
| NM_001198687.1:c.1913-23A>G | NP_001185616.1:n.1913-23A>G | |
| NM_001198688.1:c.1913-23A>G , LRG_283t4:c.1913-23A>G | NP_001185617.1:n.1913-23A>G | |
| NM_001198689.1:c.1913-23A>G | NP_001185618.1:n.1913-23A>G | |
| NM_002303.5:c.1913-23A>G , LRG_283t3:c.1913-23A>G | NP_002294.2:n.1913-23A>G | |
| NM_001198687.2:c.1913-23A>G | NP_001185616.1:n.1913-23A>G | |
| NM_002303.6:c.1913-23A>G MANE Select | NP_002294.2:n.1913-23A>G | |
| NM_001198689.2:c.1913-23A>G | NP_001185618.1:n.1913-23A>G |