Linked Data
dbSNP Id:
rs571695233
ExAC:
18:29172984 C / G
gnomAD v2:
18-29172984-C-G
gnomAD v3:
18-31593021-C-G
gnomAD v4:
18-31593021-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31593021C>G , CM000680.2:g.31593021C>G | GRCh38 |
| NC_000018.9:g.29172984C>G , CM000680.1:g.29172984C>G | GRCh37 |
| NC_000018.8:g.27426982C>G | NCBI36 |
| NG_009490.1:g.6255C>G , LRG_416:g.6255C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.195C>G MANE Select | ENSP00000237014.4:p.Ala65= | |
| ENST00000610404.5:c.99C>G | ENSP00000477599.2:p.Ala33= | |
| ENST00000649620.1:c.195C>G | ENSP00000497927.1:p.Ala65= | |
| ENST00000237014.7:c.195C>G | ENSP00000237014.3:p.Ala65= | |
| ENST00000432547.7:n.221C>G | ||
| ENST00000541025.2:n.221C>G | ||
| ENST00000610404.4:c.195C>G | ENSP00000477599.1:p.Ala65= | |
| ENST00000613781.1:c.195C>G | ENSP00000479174.1:p.Ala65= | |
| NM_000371.3:c.195C>G , LRG_416t1:c.195C>G | NP_000362.1:p.Ala65= | |
| NM_000371.4:c.195C>G MANE Select | NP_000362.1:p.Ala65= |