Linked Data
dbSNP Id:
rs1260192036
gnomAD v2:
18-29175293-A-G
gnomAD v3:
18-31595330-A-G
gnomAD v4:
18-31595330-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595330A>G , CM000680.2:g.31595330A>G | GRCh38 |
| NC_000018.9:g.29175293A>G , CM000680.1:g.29175293A>G | GRCh37 |
| NC_000018.8:g.27429291A>G | NCBI36 |
| NG_009490.1:g.8564A>G , LRG_416:g.8564A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.336+75A>G MANE Select | ENSP00000237014.4:n.336+75A>G | |
| ENST00000610404.5:c.240+75A>G | ENSP00000477599.2:n.240+75A>G | |
| ENST00000649620.1:c.336+75A>G | ENSP00000497927.1:n.336+75A>G | |
| ENST00000237014.7:c.336+75A>G | ENSP00000237014.3:n.336+75A>G | |
| ENST00000541025.2:n.437A>G | ||
| ENST00000610404.4:c.357+54A>G | ENSP00000477599.1:n.357+54A>G | |
| ENST00000613781.1:c.336+75A>G | ENSP00000479174.1:n.336+75A>G | |
| NM_000371.3:c.336+75A>G , LRG_416t1:c.336+75A>G | NP_000362.1:n.336+75A>G | |
| NM_000371.4:c.336+75A>G MANE Select | NP_000362.1:n.336+75A>G |