Linked Data
ClinVar Variation Id:
16075
ClinVar RCV Id:
RCV000017454
RCV000017453
RCV000017458
RCV000259759
RCV000319518
RCV000281261
RCV000455762
RCV001515636
RCV001154197
RCV002504800
RCV002293980
dbSNP Id:
rs641153
ExAC:
6:31914180 G / A
gnomAD v2:
6-31914180-G-A
gnomAD v3:
6-31946403-G-A
gnomAD v4:
6-31946403-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946403G>A , CM000668.2:g.31946403G>A | GRCh38 |
| NC_000006.11:g.31914180G>A , CM000668.1:g.31914180G>A | GRCh37 |
| NC_000006.10:g.32022159G>A | NCBI36 |
| NG_008191.1:g.5460G>A , LRG_136:g.5460G>A | |
| NG_011730.1:g.23915G>A , LRG_26:g.23915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.272G>A | ||
| ENST00000483004.2:c.95G>A | ENSP00000419887.2:p.Arg32Gln | |
| ENST00000497841.6:c.95G>A | ENSP00000513847.1:p.Arg32Gln | |
| ENST00000698628.1:c.95G>A | ENSP00000513848.1:p.Arg32Gln | |
| ENST00000698629.1:n.272G>A | ||
| ENST00000698630.1:n.256G>A | ||
| ENST00000698631.1:n.251G>A | ||
| ENST00000698632.1:n.223G>A | ||
| ENST00000698633.1:n.193G>A | ||
| ENST00000698636.1:n.317G>A | ||
| ENST00000425368.7:c.95G>A MANE Select | ENSP00000416561.2:p.Arg32Gln | |
| ENST00000425368.6:c.95G>A | ENSP00000416561.2:p.Arg32Gln | |
| ENST00000452035.6:n.95G>A | ||
| ENST00000456570.5:c.1601G>A | ENSP00000410815.1:p.Arg534Gln | |
| ENST00000460718.5:c.65-83G>A | ENSP00000417793.1:n.65-83G>A | |
| ENST00000472581.1:n.342G>A | ||
| ENST00000475617.5:c.95G>A | ENSP00000420090.1:p.Arg32Gln | |
| ENST00000477310.1:c.1352-604G>A | ENSP00000418996.1:n.1352-604G>A | |
| NM_001710.5:c.95G>A , LRG_136t1:c.95G>A | NP_001701.2:p.Arg32Gln | |
| NM_001710.6:c.95G>A MANE Select | NP_001701.2:p.Arg32Gln |