Linked Data
ClinVar Variation Id:
2397647
ClinVar RCV Id:
RCV002738998
dbSNP Id:
rs1291066881
gnomAD v3:
6-31946283-G-A
gnomAD v4:
6-31946283-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946283G>A , CM000668.2:g.31946283G>A | GRCh38 |
| NC_000006.11:g.31914060G>A , CM000668.1:g.31914060G>A | GRCh37 |
| NC_000006.10:g.32022039G>A | NCBI36 |
| NG_008191.1:g.5340G>A , LRG_136:g.5340G>A | |
| NG_011730.1:g.23795G>A , LRG_26:g.23795G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.239G>A | ||
| ENST00000483004.2:c.62G>A | ENSP00000419887.2:p.Gly21Glu | |
| ENST00000497841.6:c.62G>A | ENSP00000513847.1:p.Gly21Glu | |
| ENST00000698628.1:c.62G>A | ENSP00000513848.1:p.Gly21Glu | |
| ENST00000698629.1:n.239G>A | ||
| ENST00000698630.1:n.223G>A | ||
| ENST00000698631.1:n.218G>A | ||
| ENST00000698632.1:n.190G>A | ||
| ENST00000698633.1:n.160G>A | ||
| ENST00000698636.1:n.284G>A | ||
| ENST00000425368.7:c.62G>A MANE Select | ENSP00000416561.2:p.Gly21Glu | |
| ENST00000425368.6:c.62G>A | ENSP00000416561.2:p.Gly21Glu | |
| ENST00000452035.6:n.62G>A | ||
| ENST00000456570.5:c.1571-90G>A | ENSP00000410815.1:n.1571-90G>A | |
| ENST00000460718.5:c.62G>A | ENSP00000417793.1:p.Gly21Glu | |
| ENST00000472581.1:n.309G>A | ||
| ENST00000475617.5:c.62G>A | ENSP00000420090.1:p.Gly21Glu | |
| ENST00000477310.1:c.1352-724G>A | ENSP00000418996.1:n.1352-724G>A | |
| NM_001710.5:c.62G>A , LRG_136t1:c.62G>A | NP_001701.2:p.Gly21Glu | |
| NM_001710.6:c.62G>A MANE Select | NP_001701.2:p.Gly21Glu |