Linked Data
ClinVar Variation Id:
13583
dbSNP Id:
rs73015965
ExAC:
6:161127501 A / G
gnomAD v2:
6-161127501-A-G
gnomAD v3:
6-160706469-A-G
gnomAD v4:
6-160706469-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160706469A>G , CM000668.2:g.160706469A>G | GRCh38 |
| NC_000006.11:g.161127501A>G , CM000668.1:g.161127501A>G | GRCh37 |
| NC_000006.10:g.161047491A>G | NCBI36 |
| NG_016200.1:g.9277A>G , LRG_571:g.9277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.49+4116A>G | ENSP00000516619.1:n.49+4116A>G | |
| ENST00000418964.2:c.112A>G | ENSP00000389424.2:p.Lys38Glu | |
| ENST00000494325.2:c.-114A>G | ENSP00000516620.1:n.-114A>G | |
| ENST00000706906.1:c.112A>G | ENSP00000516618.1:p.Lys38Glu | |
| ENST00000308192.14:c.112A>G MANE Select | ENSP00000308938.9:p.Lys38Glu | |
| ENST00000297289.8:n.94+4116A>G | ||
| ENST00000308192.13:c.112A>G | ENSP00000308938.9:p.Lys38Glu | |
| ENST00000366924.6:c.112A>G | ENSP00000355891.2:p.Lys38Glu | |
| ENST00000418964.1:c.112A>G | ENSP00000389424.1:p.Lys38Glu | |
| ENST00000462918.5:n.149A>G | ||
| ENST00000471691.1:n.95A>G | ||
| ENST00000483038.5:n.125A>G | ||
| ENST00000484367.5:n.1082A>G | ||
| ENST00000494325.1:n.96A>G | ||
| NM_000301.3:c.112A>G , LRG_571t1:c.112A>G | NP_000292.1:p.Lys38Glu | |
| NM_001168338.1:c.112A>G , LRG_571t2:c.112A>G | NP_001161810.1:p.Lys38Glu | |
| NM_000301.4:c.112A>G | NP_000292.1:p.Lys38Glu | |
| NM_000301.5:c.112A>G MANE Select | NP_000292.1:p.Lys38Glu |