Linked Data
dbSNP Id:
rs10493380
gnomAD v2:
1-66046117-A-C
gnomAD v3:
1-65580434-A-C
gnomAD v4:
1-65580434-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65580434A>C , CM000663.2:g.65580434A>C | GRCh38 |
| NC_000001.10:g.66046117A>C , CM000663.1:g.66046117A>C | GRCh37 |
| NC_000001.9:g.65818705A>C | NCBI36 |
| NG_015831.2:g.164870A>C , LRG_283:g.164870A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349533.11:c.494+7985A>C MANE Select | ENSP00000330393.7:n.494+7985A>C | |
| ENST00000344610.12:c.494+7985A>C | ENSP00000340884.8:n.494+7985A>C | |
| ENST00000349533.10:c.494+7985A>C | ENSP00000330393.6:n.494+7985A>C | |
| ENST00000371058.1:c.494+7985A>C | ENSP00000360097.1:n.494+7985A>C | |
| ENST00000371059.7:c.494+7985A>C | ENSP00000360098.3:n.494+7985A>C | |
| ENST00000371060.7:c.494+7985A>C | ENSP00000360099.3:n.494+7985A>C | |
| ENST00000406510.7:c.-127+7985A>C | ENSP00000384025.3:n.-127+7985A>C | |
| ENST00000462765.5:n.644+7985A>C | ||
| ENST00000616738.4:c.494+7985A>C | ENSP00000483390.1:n.494+7985A>C | |
| NM_001003679.3:c.494+7985A>C , LRG_283t1:c.494+7985A>C | NP_001003679.1:n.494+7985A>C | |
| NM_001003680.3:c.494+7985A>C , LRG_283t2:c.494+7985A>C | NP_001003680.1:n.494+7985A>C | |
| NM_001198687.1:c.494+7985A>C | NP_001185616.1:n.494+7985A>C | |
| NM_001198688.1:c.494+7985A>C , LRG_283t4:c.494+7985A>C | NP_001185617.1:n.494+7985A>C | |
| NM_001198689.1:c.494+7985A>C | NP_001185618.1:n.494+7985A>C | |
| NM_002303.5:c.494+7985A>C , LRG_283t3:c.494+7985A>C | NP_002294.2:n.494+7985A>C | |
| NM_001198687.2:c.494+7985A>C | NP_001185616.1:n.494+7985A>C | |
| NM_002303.6:c.494+7985A>C MANE Select | NP_002294.2:n.494+7985A>C | |
| NM_001198689.2:c.494+7985A>C | NP_001185618.1:n.494+7985A>C |