Linked Data
ClinVar Variation Id:
3038406
ClinVar RCV Id:
RCV003919872
dbSNP Id:
rs3786362
ExAC:
18:662247 A / G
gnomAD v2:
18-662247-A-G
gnomAD v3:
18-662247-A-G
gnomAD v4:
18-662247-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.662247A>G , CM000680.2:g.662247A>G | GRCh38 |
| NC_000018.9:g.662247A>G , CM000680.1:g.662247A>G | GRCh37 |
| NC_000018.8:g.652247A>G | NCBI36 |
| NG_028255.1:g.9644A>G , LRG_783:g.9644A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323274.15:c.381A>G MANE Select | ENSP00000315644.10:p.Glu127= | |
| ENST00000323224.7:c.381A>G | ENSP00000314727.7:p.Glu127= | |
| ENST00000323250.9:c.205+4300A>G | ENSP00000314902.5:n.205+4300A>G | |
| ENST00000323274.14:c.381A>G | ENSP00000315644.10:p.Glu127= | |
| ENST00000579128.1:n.459A>G | ||
| NM_001071.2:c.381A>G , LRG_783t1:c.381A>G | NP_001062.1:p.Glu127= | |
| NM_001071.3:c.381A>G | NP_001062.1:p.Glu127= | |
| NM_001354867.1:c.381A>G | NP_001341796.1:p.Glu127= | |
| NM_001354868.1:c.205+4300A>G | NP_001341797.1:n.205+4300A>G | |
| NM_001071.4:c.381A>G MANE Select | NP_001062.1:p.Glu127= | |
| NM_001354867.2:c.381A>G | NP_001341796.1:p.Glu127= | |
| NM_001354868.2:c.205+4300A>G | NP_001341797.1:n.205+4300A>G |